The aim of this study was to determine the effects of an IL-6 gene polymorphism,discovered in the 5' regulatory region,on porcine litter size.An association analysis was performed between the polymorphism and tota...The aim of this study was to determine the effects of an IL-6 gene polymorphism,discovered in the 5' regulatory region,on porcine litter size.An association analysis was performed between the polymorphism and total number born(TNB) and number born alive(NBA) in 421 sows.The polymorphism was at Hpy188I within the 5' regulatory region of IL-6 gene.Three genotypes of AA,AG,and GG were detected in Landrace,and two genotypes,AA and AG,were detected in Yorkshire and Duroc pigs.The A allele was the superior allele in all three breeds,with allele frequencies ranging from 0.901 to 0.993.The IL-6 genotype was highly significantly associated with TNB and NBA in the third and following parities(P<0.01),and with total parities(P<0.05).In general,the TNB and NBA showed a tendency of GG>AG>AA,indicating that the common allele was the least favorable for litter size.Thus,there is an enormous opportunity to increase litter size if this effect is confirmed in other studies.展开更多
BACKGROUND Diabetic kidney disease is one of the common complications of type 2 diabetes(T2D).There are no typical symptoms in the early stage,and the disease will progress to moderate and late stage when albuminuria ...BACKGROUND Diabetic kidney disease is one of the common complications of type 2 diabetes(T2D).There are no typical symptoms in the early stage,and the disease will progress to moderate and late stage when albuminuria reaches a high level.Treatment is difficult and the prognosis is poor.At present,the pathogenesis of diabetic kidney disease is still unclear,and it is believed that it is associated with genetic and environmental factors.AIM To explore the relationship between the glucokinase regulatory protein(GCKR)gene rs780094 polymorphism and T2D with albuminuria.METHODS We selected 252 patients(126 males and 126 females)with T2D admitted to our hospital from January 2020 to October 2020,and 66 healthy people(44 females and 22 males).According to the urinary albumin/creatinine ratio,the subjects were divided into group I(control),group II(T2D with normoalbuminuria),group III(T2D with microalbuminuria),and group IV(T2D with macroalbuminuria).Additionly,the subjects were divided into group M(normal group)or group N(albuminuria group)according to whether they developed albuminuria.We detected the GCKR gene rs780094 polymorphism(C/T)of all subjects,and measured the correlation between GCKR gene rs780094 polymorphism(C/T)and T2D with albuminuria.RESULTS Gene distribution and genotype distribution among groups I-IV accorded with the Hardy-Weinberg equilibrium.Genotype frequency was significantly different among the four groups (P = 0.048, χ^(2)= 7.906). T allele frequency in groups II, III, and IV was significantly higherthan that in group I. Logistic regression analysis of the risk factors for T2D with albuminuria showed that the CT +TT genotype (odds ratio = 1.710, 95% confidence interval: 1.172-2.493) was a risk factor.CONCLUSION CT + TT genotype is a risk factor for T2D with albuminuria. In the future, we can assess the risk of individualscarrying susceptible genes to delay the onset of T2D.展开更多
To investigate the mutations in the upstream regulatory region (URR) of human papillomavirus type 16 (HPV-16) from the cervical cancer biopsies in Xinjiang Uygur women and its relationship to the high incidence of cer...To investigate the mutations in the upstream regulatory region (URR) of human papillomavirus type 16 (HPV-16) from the cervical cancer biopsies in Xinjiang Uygur women and its relationship to the high incidence of cervical cancer in the southern Xinjiang, the tissue DNA was extracted from the cervical cancer biopsies, and the URR segment of HPV-16 DNA was amplified, sequenced and analyzed. Thereafter, the polymorphism of URR in HPV-16 was then analyzed. It was demonstrated that the positive rate detected for the presence of URR in HPV-16 was 89.47% (17/19). Compared with the previously published sequence in URR of prototype HPV-16, some mutations were detected in the sequence of URR. The mutations in 17 URR fragments of HPV-16 could be divided into 11 patterns (XJU-1 to XJU-11) at nucleic acid level, in which each of XJU-1 and XJU-4 accounted for 23.53% (4/17), and other patterns of mutation accounted for 5.88% (1/17) . In comparison with the URR of prototype HPV-16, the DNA identity of these patterns was 98.50%-99.68% . In these 17 URR fragments, two point mutations occurred at position 7192 (G to T) and position 7520 (G to A) and they appeared to be constant in Xinjiang area. These two mutations were ubiquitous in the Asia-American type and conferred strong infection activity and carcinogenicity of this virus. In addition, the mutations at position 7729 (A to C), position 7843 (A to G) and position 7792 (C to T) could enhance its transcription activity considerably. It is concluded that some mutations occur in URR gene of HPV-16 in the cervical cancer biopsies taken from Uygur women in Xinjiang area, suggesting that certain relationship exists among the mutations in URR of HPV-16, the phylogeny of HPV-16 and the high incidence of cervical cancer in southern part of Xinjiang area.展开更多
Objective: To investigate the correlation between E670 G polymorphism of proprotein convertase subtilisin/kexin type 9(PCSK9) gene and coronary heart disease(CHD), and contrastively study the regional differences of E...Objective: To investigate the correlation between E670 G polymorphism of proprotein convertase subtilisin/kexin type 9(PCSK9) gene and coronary heart disease(CHD), and contrastively study the regional differences of E670 G polymorphism of PCSK9 gene between patients with CHD among the Han population in Hainan and three provinces in the northeast of China(TPNC), providing scientific basis for prevention and treatment of patients with CHD in different regions. Methods: A total of 233 cases of patients with CHD were selected from the Han population in Hainan and TPNC as the experimental group(118 cases from Hainan, 115 cases from TPNC), and 239 cases with non-CHD were selected among the Han population also in the two regions as control group(125 cases from Hainan, 114 cases from TPNC). The triglyceride(TG), total cholesterol(TC), high density lipoprotein cholesterol and low density lipoprotein cholesterol(LDL-C) levels of plasma were tested and PCR-RFLP method was used to test the E670 G polymorphism of PCSK9 gene. The statistical software package SPSS 21.0 was used for the statistical analysis and P<0.05 was considered as statistically significant. Results: The levels of systolic pressure, diastolic blood pressure, fasting blood sugar, TC, TG, and LDL-C of patients in CHD group were significantly higher than those in non-CHD group, while the high density lipoprotein cholesterol level was lower than that in non-CHD group(P<0.05). In CHD group, the frequencies of AG, GG genotypes of PCSK9 gene and G allele were higher than those in non-CHD group(P<0.05), and in CHD group, the frequencies of AG, GG genotypes and G allele of patients both in Hainan and TPNC were higher than those in control group(P<0.05). Among the patients with CHD, the frequencies of GG genotype and G allele of patients in Hainan were lower than those in TPNC(P<0.05), and in CHD group, the levels of TG, TC and LDL-C of GG genotype were higher than those of AA genotype(P<0.05). While in non-CHD group, there were no significant differences between the frequencies of GG genotype and G allele of patients in Hainan and TPNC(P>0.05). Conclusions: There was a close correlation between the E670 G polymorphism of PCSK9 gene and CHD with serum lipid level. Among Han population in Hainan and TPNC, the E670 G polymorphism of PCSK9 gene of patients with CHD exhibited regional differences.展开更多
The rs10954213 polymorphism and the haplotype diversity in interferon regulatory factor 5 (IRF5) play a special role in systemic lupus erythematosus (SLE) but with inconclusive results. We conducted a meta-analysis in...The rs10954213 polymorphism and the haplotype diversity in interferon regulatory factor 5 (IRF5) play a special role in systemic lupus erythematosus (SLE) but with inconclusive results. We conducted a meta-analysis integrating case-control and haplotype variant studies in multiple ethnic populations to clearly discern the effect of these two variants on SLE. Eleven studies on the relation between rs10954213 polymorpisms in IRF5 and SLE were included and we selected a random effect model to calculate the pooled odds ratios (ORs) and the corresponding 95% confidence interval (95% CI). A total of 6982 cases and 8077 controls were involved in the meta-analysis. The pooled results indicated that A allele was significantly associated with increased risk of SLE as compared with the IRF5 rs10954213 G allele (A vs. G, P<0.00001) in all subjects. The same pattern of the results was also obtained in the European, African American, and Latin American. Asian population had a much lower prevalence of the A allele (49.1%) than any other population studied, and Europeans had the highest frequency of the IRF5 rs10954213 A allele (62.1%). The significant association of increased SLE risk and TCA haplotype was indicated in the contrast of TCA vs. TTA as the pooled OR was 2.14 (P=0.002). The same result was also found in the contrast of TCA vs. TTG as the pooled OR was 1.45 (P=0.004). This meta-analysis suggests that the A allele of rs10954213 and TCA haplotype (rs2004640-rs2070197-rs10954213) in IRF5 is associated with the increased risk of SLE in different ethnic groups, and its prevalence is ethnicity dependent.展开更多
Developmental dyslexia is a complex reading and writing disorder with strong genetic components. In previous genetic studies about dyslexia, a number of candidate genes have been identified. These include DCDC2, which...Developmental dyslexia is a complex reading and writing disorder with strong genetic components. In previous genetic studies about dyslexia, a number of candidate genes have been identified. These include DCDC2, which has repeatedly been associated with developmental dyslexia in various European and American populations. However, data regarding this relationship are varied according to population. The Uyghur people of China represent a Eurasian population with an interesting genetic profile. Thus, this group may provide useful information about the association between DCDC2 gene polymorphisms and dyslexia. In the current study, we examined genetic data from 392 Uyghur children aged 8–12 years old from the Xinjiang Uyghur Autonomous Region of China. Participants included 196 children with dyslexia and 196 grade-, age-, and gender-matched controls. DNA was isolated from oral mucosal cell samples and fourteen single nucleotide polymorphisms(rs6456593, rs1419228, rs34647318, rs9467075, rs793862, rs9295619, rs807701, rs807724, rs2274305, rs7765678, rs4599626, rs6922023, rs3765502, and rs1087266) in DCDC2 were screened via the SNPscan method. We compared SNP frequencies in five models(Codominant, Dominant, Recessive, Heterozygote advantage, and Allele) between the two groups by means of the chi-squared test. A single-locus analysis indicated that, with regard to the allele frequency of these polymorphisms, three SNPs(rs807724, rs2274305, and rs4599626) were associated with dyslexia. rs9467075 and rs2274305 displayed significant associations with developmental dyslexia under the dominant model. rs6456593 and rs6922023 were significantly associated with developmental dyslexia under the dominant model and in the heterozygous genotype. Additionally, we discovered that the T-G-C-T of the four-marker haplotype(rs9295619-rs807701-rs807724-rs2274305) and the T-A of the two-marker haplotype(rs3765502-1087266) were significantly different between cases and controls. Thus, we conclude that DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children.展开更多
Objective: To observe the expression of Resistin mRNA in peripheral blood mononuclear cells and its gene poly-morphism in coding region in a small range population in Zhejiang Province of China. Methods: Eighty-three ...Objective: To observe the expression of Resistin mRNA in peripheral blood mononuclear cells and its gene poly-morphism in coding region in a small range population in Zhejiang Province of China. Methods: Eighty-three cases of type 2 diabetes mellitus and 53 healthy people were included. The expression of Resistin mRNA in peripheral blood mononuclear cells was detected by RT-PCR and semi-quantitative PCR assay. The sequencing work was done in Resistin cDNA and gene poly-morphism was analyzed. Results: At the same condition, in 83 diabetes patients, Resistin mRNA was detected in 23 cases (11 males and 12 females). There was no Resistin mRNA expression in 53 healthy people. The ratio of PCR products between Resistin and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) was from 0.564 to 1.238, averaging 0.804±0.436. The sequence of Resistin cDNA is almost identical with each other and with that in GenBank with no single nucleotide polymorphism being found. Conclusion: Resistin mRNA is expressed in human peripheral blood mononuclear cells in some type 2 diabetes mellitus, but its expression is at a low level. Among the experiment population we did not find polymorphism phenomenon in Resistin coding region. The different individual’s Resistin coding region is highly coincident.展开更多
Xenopus organizer specific gene Noggin possessesnearly all the characterestic properties of the action of or-ganizer to specify the embryonic body axis. To analyzehow the maternal inherited factors cofltrol its expres...Xenopus organizer specific gene Noggin possessesnearly all the characterestic properties of the action of or-ganizer to specify the embryonic body axis. To analyzehow the maternal inherited factors cofltrol its expressionpattern, we cloned the 5’ regulatory region of noggn gene.The 1.5 kb upstream sequense could direct reporter geneto express in vivo and data from deletion analysis indi-cated that a 229 base pair fragmet is essential for acti-vating noggn expression. We further demonstrated thatthe response elements within this regulatory region wereindeed under the control of growth factor activin and Wntsignaling pathway components.展开更多
Non-alcoholic fatty liver disease(NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma(HCC). Therefore, risk stratificat...Non-alcoholic fatty liver disease(NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma(HCC). Therefore, risk stratification emerges as fundamental in order to optimize human and economic resources, and genetics displays intrinsic characteristics suitable to fulfill this task. According to the available data, heritability estimates for hepatic fat content range from 20% to 70%, and an almost 80% of shared heritability has been found between hepatic fat content and fibrosis. The rs738409 single nucleotide polymorphism(SNP) in patatin-like phospholipase domain-containing protein 3 gene and the rs58542926 SNP in transmembrane 6 superfamily member 2 gene have been robustly associated with NAFLD and with its progression, but promising results have been obtained with many other SNPs. Moreover, there has been proof of the additive role of the different SNPs in determining liver damage, and there have been preliminary experiences in which risk scores created through a few genetic variants, alone or in combination with clinical variables, were associated with a strongly potentiated risk of NAFLD, non-alcoholic steatohepatitis(NASH), NASH fibrosis or NAFLD-HCC. However, to date, clinical translation of genetics in the field of NAFLD has been poor or absent. Fortunately, the research we have done seems to have placed us on the right path: We should rely on longitudinal rather than on cross-sectional studies; we should focus on relevant outcomes rather than on simple liver fat accumulation; and we should put together the genetic and clinical information. The hope is that combined genetic/clinical scores, derived from longitudinal studies and built on a few strong genetic variants and relevant clinical variables, will reach a significant predictive power, such as to have clinical utility for risk stratification at the single patient level and even to esteem the impact of intervention on the risk of disease-related outcomes. Well-structured future studies would demonstrate if this vision can become a reality.展开更多
Serotonin (5-hydroxytryptamine, 5-HT) influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter (5-HTT) is the mo...Serotonin (5-hydroxytryptamine, 5-HT) influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter (5-HTT) is the most important factor in serotonin inactivation. We tested whether 5-HTT polymorphisms are involved in the pathogenesis of epilepsy in Chinese Han population. We did not find a significant difference in the frequencies of genotypes and alleles in the 5-HTT gene-linked polymorphic region (5-HTTLPR) in patients with non-lesional temporal lobe epilepsy and normal controls (P > 0.05). Frequencies of the 5-HTT intron 2 variable number tandem repeat (5-HTTVNTR) 12/12 genotype and allele 12 were higher in the patients with non-lesional temporal lobe epilepsy than normal controls (P < 0.01). The odds ratio of affecting non-lesional temporal lobe epilepsy was 1.435 (95% CI, 1.096-1.880) in patients carrying allele 12 (P < 0.05). Although the 5-HTTLPR may not be a genetic locus of non-lesional temporal lobe epilepsy in Chinese Han population, allele 12 in the 5-HTTVNTR may correlate with non-lesional temporal lobe epilepsy. The Stin2.12 allele and 12/12 genotype could be predisposing to non-lesional temporal lobe epilepsy.展开更多
BACKGROUND:Serotonin transporter(5-HTT) polymorphisms comprise 5-HTT gene-linked polymorphism region(5-HTTLPR) and variable number of tandem repeats(VNTR).Studies have revealed an association between 5-HTT polymorphis...BACKGROUND:Serotonin transporter(5-HTT) polymorphisms comprise 5-HTT gene-linked polymorphism region(5-HTTLPR) and variable number of tandem repeats(VNTR).Studies have revealed an association between 5-HTT polymorphism and major depressive disorder,which suggests that the'S'allele of 5-HTTLPR and Stin2.9 of 5-HTTVNTR are associated with major depressive disorder.However,there are a number of studies that do not support the 5-HTT polymorphism effect in major depressive disorder. OBJECTIVE:To study the relationship between 5-HTT gene polymorphism and major depressive disorder in Chinese Han population. DESIGN,TIME AND SETTING:Case-controlled study of 5-HTT gene polymorphism.The experiment was performed at the Central Laboratory,Third Affiliated Hospital of Sun Yat-sen University,China from March 2005 to January 2006. PARTICIPANTS:A total of 99 depressive patients of Chinese Han nationality were recruited for this study.All patients met DSM-Ⅳdiagnostic criteria for major depressive disorder and had a total score of Hamilton Depression Scale(24 items)≥21 points.In addition,101 healthy subjects,matched for age and gender,served as the control group. METHODS:Venous blood was collected from all subjects.5-HTT genotypes and alleles were determined by polymerase chain reaction.Consistent with the Hardy-Weinberg equilibrium,the association between 5-HTT gene polymorphism and major depressive disorder were analyzed by Chi-square test. MAIN OUTCOME MEASURES:5-HTTLPR and 5-HTTVNTR genotypes and allele frequencies were measured. RESULTS:No significant differences in 5-HTTLPR genotypes and allele frequencies were determined between patients and controls(P>0.05).However,significant differences in 5-HTTVNTR genotypes and allele frequencies were detected(P<0.01).The Stin2.10 allele and 10/10 genotype associated with major depressive disorder(OR=2.61,7.7,P<0.05;analysis of dose-response relationships x^2=12.35,P<0.01). CONCLUSION:Results from the present study revealed no association between 5-HTTLPR and major depressive disorder.However,a significant association between 5-HTTVNTR and major depressive disorder existed in a population of Chinese Han.The presence of Stin2.10 and 10/10 genotypes increased the risk for major depressive disorder in a dose-dependent manner.展开更多
Myostatin is a negative regulator of skeletal muscle mass. The present study cloned the 5′ regulatory region of porcine myostatin gene, screened its polymorphisms and analyzed their associations with early growth tra...Myostatin is a negative regulator of skeletal muscle mass. The present study cloned the 5′ regulatory region of porcine myostatin gene, screened its polymorphisms and analyzed their associations with early growth traits in Yorkshire pigs. The results indicated that a fragment length polymorphism and a polymorphism concerning two nucleotide changes exist in the 5′ regulatory region of porcine my-ostatin gene. At sites 435 and 447, allele A and allele B have the haplotypes of A-G and G-A, respec-tively. The allelic frequency of B is 0.475 in Yorkshire pigs. No homozygous BB genotype was detected in 9 Laiwu Black pigs. Allele B was found to have positive effect on body weight on day 21 (BW21) (P<0.01), body weight on day 28 (BW28) (P<0.05), body weight on day 70 (BW70) (P<0.05), average daily gain from birth to 21 d (ADG1) (P<0.01), average daily gain from birth to 28 d (ADG2) (P<0.05) and av-erage daily gain from 21 d to 70 d (ADG3) (P<0.01), respectively. The additive effect of allele B on BW21, BW28, BW70, ADG1, ADG2 and ADG3 was 0.596±0.205 kg (P=0.0041), 0.498±0.200 kg (P=0.0136), 1.409±0.551 kg (P=0.0112), 28.39±9.74 g P=0.0041), 17.78±7.15 g (P=0.0136) and 37.00±16.92 g (P=0.0304), respectively, whereas its effect on average daily gain from 28 d to 70 d (ADG4) was not significant (P>0.1), although BB individuals are superior in average daily gain to AA and AB.展开更多
The understanding of cSNPs of cancer-related genes harboring in high frequency loss regions of tumor chromosomes can advance the disclosure of genetic and variant mechanisms of tumorigenesis,and the investigation of c...The understanding of cSNPs of cancer-related genes harboring in high frequency loss regions of tumor chromosomes can advance the disclosure of genetic and variant mechanisms of tumorigenesis,and the investigation of cancer susceptibility. In preparing a gene chip for detecting polymorphisms on coding region of genes in hepatocellular carcinoma tissues, some cSNPs are of interest for their potential links with phenotype. METHODS: The genes harboring in loss regions with high frequency of hepatocellular carcinoma (HCC) were selected, the related information of cSNP sequences was obtained from the SNP database (dbSNP) of the National Center for Biotechnology Information (NCBI). Then appropriate primers and oligonucleotide probes were designed according to the SNP sites, and a gene chip for the detection of SNPs was constructed. The chip included 48 cSNPs of 25 hepatocellular carcinoma-related genes. The PCR products labeled by Dig-dUTP were hybridized with the cSNP chip. RESULTS:The sensitivity, influence by probe concentration, and reiteration of the chip were detected, with a high sensitivity of 6 × 10-3 ng/μl. The signal of hybridization was reduced with a lower concentration of probe. Seven polymorphisms of caspase 9 (rs2308941) C →T and DOK2 (rs2242241) T→G, 6 of polymorphisms of EGFL3 (rs947345) A→G, caspase 9 (rs2308938) C→G and PHGDH (rs1801955)T→A, 5 of polymorphisms of E2F2(rs3218170) G→A,4 of polymorphisms of MUTYH( rs1140507) T→C and BNIP3L(rs1055806)G→T, and 1 of polymorphism of TNFRSF1B (rs1061622)T→G were detected by the chip in the tissues of 10 HCC. Samples of caspase 9 (rs2308941G) and (rs2308941A) were verified by PCR-SSCP and sequencing. CONCLUSION:The cSNP chip of hepatocellular carcinoma-related genes can accelerate the discovery of polymorphic markers on hepatocellular carcinoma.展开更多
To examine whether or not the regulatory sequence of chicken ovalbumin gene can drive transgene expression specifically in hen oviduct, the authors constructed an oviduct-specific expression vector (pOV), containing 3...To examine whether or not the regulatory sequence of chicken ovalbumin gene can drive transgene expression specifically in hen oviduct, the authors constructed an oviduct-specific expression vector (pOV), containing 3.0 kilobases (kb) of the 5'-flanking sequence and 3.0 kb of the 3'-flanking sequence of the chicken ovalbumin gene. Jellyfish green fluorescence protein (EGFP) reporter gene and bacterial LacZ reporter gene were respectively inserted into the downstream of the 5'-regulatory region.The recombinants were named as pOVEGFP and pOVLacZ. Two transfer systems, in vitro and in vivo, were used to verify the function of the vector. In vitro, the plasmid DNA pOVEGFP and pEGFP-N1 were transfected respectively by the polyethyleneimine procedure into the primary chicken oviduct epithelium (PCOE) and fibroblasts cells isolated from laying hens. In vivo, the recombinant vector pOVLacZ was injected into egg-laying hens via wing vein and the tissues were collected for RT-PCR analysis.The results showed that expression of pEGFP-N1 was achieved at low level in oviduct epithelial cells and at high level in fibroblasts, but that the recombinant vector was not expressed in both cells. RT-PCR analysis showed that the LacZ gene was transcribed in the oviduct, but not in the heart, liver, kidney and spleen of the injected hens. Accordingly, the ?-galactosidase activity was only detected in the oviduct magnum (116.7 mU/ml) and eggs (16.47 mU/ml). These results indicated that the cloned regulation regions of chicken ovalbumin gene could drive exogenous gene expression specifically in the oviducts of hens. In vivo gene injection via wing vein may serve as a rapid production system of recombinant proteins in chicken eggs. In addition, the cultured primary oviduct cells from laying hens were not efficient temporary expression systems for analyzing the function of regulating elements of ovalbumin gene.展开更多
The α- and β-globin genes from Pseudosciaena crocea were cloned by rapid amplification of cDNA 3′-end (3′-RACE). The cDNA of the α-globin is 595 bp with the ATG start codon located at Position 37, the TAA stop co...The α- and β-globin genes from Pseudosciaena crocea were cloned by rapid amplification of cDNA 3′-end (3′-RACE). The cDNA of the α-globin is 595 bp with the ATG start codon located at Position 37, the TAA stop codon at Position 469 and the AATAAA polyadenylation signal at Position 560, which codifies 145 amino acids. The entire open reading frame of the β-globin gene is 447 bp long, which encodes 148 amino acids. Amino acid identity of the α- globin or β-globin gene compared with those reported in other fish species, ranged from 31.9% to 76.4%. When comparing with human α- and β-globins, three important alterations in the structural regions can be noted: α39 Thr→Gln, α113 His→Tyr and β117 His→Lys. The α-globin has a unique inserted amino acid residue in the 47th position. To understand the process of globin gene duplication and identify the regulatory elements present in the intergenic and intragenic regions of globin genes, the genomic arrangement of α- and β-globin genes was investigated. The results showed that the orientation of the two genes was head-to-head relative to each other. The intergenic region between the translation initiation codons of the linked α- and β-globin genes contains classical promoter elements and the length of it is much shorter than that reported in other fish.展开更多
Type 2 diabetes(T2D) is a common metabolic disorder which is caused by multiple genetic perturbations affecting different biological pathways. Identifying genetic factors modulating the susceptibility of this complex ...Type 2 diabetes(T2D) is a common metabolic disorder which is caused by multiple genetic perturbations affecting different biological pathways. Identifying genetic factors modulating the susceptibility of this complex heterogeneous metabolic phenotype in different ethnic and racial groups remains challenging. Despite recent success, the functional role of the T2D susceptibility variants implicated by genome-wide association studies(GWAS) remains largely unknown. Genetic dissection of transcript abundance or expression quantitative trait(eQTL) analysis unravels the genomic architecture of regulatory variants. Availability of eQTL information from tissues relevant for glucose homeostasis in humans opens a new avenue to prioritize GWASimplicated variants that may be involved in triggering a causal chain of events leading to T2D. In this article, we review the progress made in the field of eQTL research and knowledge gained from those studies in understanding transcription regulatory mechanisms in human subjects. We highlight several novel approaches that can integrate eQTL analysis with multiple layers of biological information to identify ethnic-specific causal variants and gene-environment interactions relevant to T2D pathogenesis. Finally, we discuss how the eQTL analysis mediated search for "missing heritability" may lead us to novel biological and molecular mechanisms involved in susceptibility to T2D.展开更多
hap , a novel human apoptosis inducing gene which can interact with another newly discovered apoptosis inducing gene ASY, was identified by cloning its cDNAs from human lung cell line (WI 38) cDNA library. Two major m...hap , a novel human apoptosis inducing gene which can interact with another newly discovered apoptosis inducing gene ASY, was identified by cloning its cDNAs from human lung cell line (WI 38) cDNA library. Two major mRNA species (1.8 and 2.7 kb in length, respectively) were previously identified by Northern blot analysis of poly(A) + RNA from human multiple tissues using partial hap cDNA as a probe. In the present work, the molecular mechanism accounting for the generation of the two hap transcripts were investigated. The rapid amplification of cDNA 3’\|ends (3’ RACE) technique and the sequential Southern blot analysis, in conjunction with the sequencing analysis demonstrated that the two hap transcripts derive from the alternative polyadenylation site selection: a AATAAA signal at position 1 528 1 533 nt for the 1.8 kb hap mRNA; and a AATAAA signal at position 2 375 2 380 nt for the 2.7 kb hap mRNA. Furthermore, a number of regulatory elements within hap 3’ untranslated region (3’\|UTR) were also examined.展开更多
基金supported by National Natural Science Foundation of China ( No.31172176 )China Agriculture Research System ( No.CARS-36 )
文摘The aim of this study was to determine the effects of an IL-6 gene polymorphism,discovered in the 5' regulatory region,on porcine litter size.An association analysis was performed between the polymorphism and total number born(TNB) and number born alive(NBA) in 421 sows.The polymorphism was at Hpy188I within the 5' regulatory region of IL-6 gene.Three genotypes of AA,AG,and GG were detected in Landrace,and two genotypes,AA and AG,were detected in Yorkshire and Duroc pigs.The A allele was the superior allele in all three breeds,with allele frequencies ranging from 0.901 to 0.993.The IL-6 genotype was highly significantly associated with TNB and NBA in the third and following parities(P<0.01),and with total parities(P<0.05).In general,the TNB and NBA showed a tendency of GG>AG>AA,indicating that the common allele was the least favorable for litter size.Thus,there is an enormous opportunity to increase litter size if this effect is confirmed in other studies.
基金the Key R&D Project of the Ministry of Science and Technology,No.2016YFC0901200 and 2016YFC0901205.
文摘BACKGROUND Diabetic kidney disease is one of the common complications of type 2 diabetes(T2D).There are no typical symptoms in the early stage,and the disease will progress to moderate and late stage when albuminuria reaches a high level.Treatment is difficult and the prognosis is poor.At present,the pathogenesis of diabetic kidney disease is still unclear,and it is believed that it is associated with genetic and environmental factors.AIM To explore the relationship between the glucokinase regulatory protein(GCKR)gene rs780094 polymorphism and T2D with albuminuria.METHODS We selected 252 patients(126 males and 126 females)with T2D admitted to our hospital from January 2020 to October 2020,and 66 healthy people(44 females and 22 males).According to the urinary albumin/creatinine ratio,the subjects were divided into group I(control),group II(T2D with normoalbuminuria),group III(T2D with microalbuminuria),and group IV(T2D with macroalbuminuria).Additionly,the subjects were divided into group M(normal group)or group N(albuminuria group)according to whether they developed albuminuria.We detected the GCKR gene rs780094 polymorphism(C/T)of all subjects,and measured the correlation between GCKR gene rs780094 polymorphism(C/T)and T2D with albuminuria.RESULTS Gene distribution and genotype distribution among groups I-IV accorded with the Hardy-Weinberg equilibrium.Genotype frequency was significantly different among the four groups (P = 0.048, χ^(2)= 7.906). T allele frequency in groups II, III, and IV was significantly higherthan that in group I. Logistic regression analysis of the risk factors for T2D with albuminuria showed that the CT +TT genotype (odds ratio = 1.710, 95% confidence interval: 1.172-2.493) was a risk factor.CONCLUSION CT + TT genotype is a risk factor for T2D with albuminuria. In the future, we can assess the risk of individualscarrying susceptible genes to delay the onset of T2D.
基金grants from the National Natural Science Foundation of China （No. 30460008） .
文摘To investigate the mutations in the upstream regulatory region (URR) of human papillomavirus type 16 (HPV-16) from the cervical cancer biopsies in Xinjiang Uygur women and its relationship to the high incidence of cervical cancer in the southern Xinjiang, the tissue DNA was extracted from the cervical cancer biopsies, and the URR segment of HPV-16 DNA was amplified, sequenced and analyzed. Thereafter, the polymorphism of URR in HPV-16 was then analyzed. It was demonstrated that the positive rate detected for the presence of URR in HPV-16 was 89.47% (17/19). Compared with the previously published sequence in URR of prototype HPV-16, some mutations were detected in the sequence of URR. The mutations in 17 URR fragments of HPV-16 could be divided into 11 patterns (XJU-1 to XJU-11) at nucleic acid level, in which each of XJU-1 and XJU-4 accounted for 23.53% (4/17), and other patterns of mutation accounted for 5.88% (1/17) . In comparison with the URR of prototype HPV-16, the DNA identity of these patterns was 98.50%-99.68% . In these 17 URR fragments, two point mutations occurred at position 7192 (G to T) and position 7520 (G to A) and they appeared to be constant in Xinjiang area. These two mutations were ubiquitous in the Asia-American type and conferred strong infection activity and carcinogenicity of this virus. In addition, the mutations at position 7729 (A to C), position 7843 (A to G) and position 7792 (C to T) could enhance its transcription activity considerably. It is concluded that some mutations occur in URR gene of HPV-16 in the cervical cancer biopsies taken from Uygur women in Xinjiang area, suggesting that certain relationship exists among the mutations in URR of HPV-16, the phylogeny of HPV-16 and the high incidence of cervical cancer in southern part of Xinjiang area.
基金supported by Hainan Province Family Planning Science and Education Health Project(NO.2013-016)
文摘Objective: To investigate the correlation between E670 G polymorphism of proprotein convertase subtilisin/kexin type 9(PCSK9) gene and coronary heart disease(CHD), and contrastively study the regional differences of E670 G polymorphism of PCSK9 gene between patients with CHD among the Han population in Hainan and three provinces in the northeast of China(TPNC), providing scientific basis for prevention and treatment of patients with CHD in different regions. Methods: A total of 233 cases of patients with CHD were selected from the Han population in Hainan and TPNC as the experimental group(118 cases from Hainan, 115 cases from TPNC), and 239 cases with non-CHD were selected among the Han population also in the two regions as control group(125 cases from Hainan, 114 cases from TPNC). The triglyceride(TG), total cholesterol(TC), high density lipoprotein cholesterol and low density lipoprotein cholesterol(LDL-C) levels of plasma were tested and PCR-RFLP method was used to test the E670 G polymorphism of PCSK9 gene. The statistical software package SPSS 21.0 was used for the statistical analysis and P<0.05 was considered as statistically significant. Results: The levels of systolic pressure, diastolic blood pressure, fasting blood sugar, TC, TG, and LDL-C of patients in CHD group were significantly higher than those in non-CHD group, while the high density lipoprotein cholesterol level was lower than that in non-CHD group(P<0.05). In CHD group, the frequencies of AG, GG genotypes of PCSK9 gene and G allele were higher than those in non-CHD group(P<0.05), and in CHD group, the frequencies of AG, GG genotypes and G allele of patients both in Hainan and TPNC were higher than those in control group(P<0.05). Among the patients with CHD, the frequencies of GG genotype and G allele of patients in Hainan were lower than those in TPNC(P<0.05), and in CHD group, the levels of TG, TC and LDL-C of GG genotype were higher than those of AA genotype(P<0.05). While in non-CHD group, there were no significant differences between the frequencies of GG genotype and G allele of patients in Hainan and TPNC(P>0.05). Conclusions: There was a close correlation between the E670 G polymorphism of PCSK9 gene and CHD with serum lipid level. Among Han population in Hainan and TPNC, the E670 G polymorphism of PCSK9 gene of patients with CHD exhibited regional differences.
基金supported by the Program for New Century Excellent Talents from the Ministry of Education of China (No.NCET-09-0390)
文摘The rs10954213 polymorphism and the haplotype diversity in interferon regulatory factor 5 (IRF5) play a special role in systemic lupus erythematosus (SLE) but with inconclusive results. We conducted a meta-analysis integrating case-control and haplotype variant studies in multiple ethnic populations to clearly discern the effect of these two variants on SLE. Eleven studies on the relation between rs10954213 polymorpisms in IRF5 and SLE were included and we selected a random effect model to calculate the pooled odds ratios (ORs) and the corresponding 95% confidence interval (95% CI). A total of 6982 cases and 8077 controls were involved in the meta-analysis. The pooled results indicated that A allele was significantly associated with increased risk of SLE as compared with the IRF5 rs10954213 G allele (A vs. G, P<0.00001) in all subjects. The same pattern of the results was also obtained in the European, African American, and Latin American. Asian population had a much lower prevalence of the A allele (49.1%) than any other population studied, and Europeans had the highest frequency of the IRF5 rs10954213 A allele (62.1%). The significant association of increased SLE risk and TCA haplotype was indicated in the contrast of TCA vs. TTA as the pooled OR was 2.14 (P=0.002). The same result was also found in the contrast of TCA vs. TTG as the pooled OR was 1.45 (P=0.004). This meta-analysis suggests that the A allele of rs10954213 and TCA haplotype (rs2004640-rs2070197-rs10954213) in IRF5 is associated with the increased risk of SLE in different ethnic groups, and its prevalence is ethnicity dependent.
基金funded by the National Natural Science Foundation of China,No.81360434
文摘Developmental dyslexia is a complex reading and writing disorder with strong genetic components. In previous genetic studies about dyslexia, a number of candidate genes have been identified. These include DCDC2, which has repeatedly been associated with developmental dyslexia in various European and American populations. However, data regarding this relationship are varied according to population. The Uyghur people of China represent a Eurasian population with an interesting genetic profile. Thus, this group may provide useful information about the association between DCDC2 gene polymorphisms and dyslexia. In the current study, we examined genetic data from 392 Uyghur children aged 8–12 years old from the Xinjiang Uyghur Autonomous Region of China. Participants included 196 children with dyslexia and 196 grade-, age-, and gender-matched controls. DNA was isolated from oral mucosal cell samples and fourteen single nucleotide polymorphisms(rs6456593, rs1419228, rs34647318, rs9467075, rs793862, rs9295619, rs807701, rs807724, rs2274305, rs7765678, rs4599626, rs6922023, rs3765502, and rs1087266) in DCDC2 were screened via the SNPscan method. We compared SNP frequencies in five models(Codominant, Dominant, Recessive, Heterozygote advantage, and Allele) between the two groups by means of the chi-squared test. A single-locus analysis indicated that, with regard to the allele frequency of these polymorphisms, three SNPs(rs807724, rs2274305, and rs4599626) were associated with dyslexia. rs9467075 and rs2274305 displayed significant associations with developmental dyslexia under the dominant model. rs6456593 and rs6922023 were significantly associated with developmental dyslexia under the dominant model and in the heterozygous genotype. Additionally, we discovered that the T-G-C-T of the four-marker haplotype(rs9295619-rs807701-rs807724-rs2274305) and the T-A of the two-marker haplotype(rs3765502-1087266) were significantly different between cases and controls. Thus, we conclude that DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children.
基金Project (No. 2003C33031) supported by the Science and Technology Department of Zhejiang Province, China
文摘Objective: To observe the expression of Resistin mRNA in peripheral blood mononuclear cells and its gene poly-morphism in coding region in a small range population in Zhejiang Province of China. Methods: Eighty-three cases of type 2 diabetes mellitus and 53 healthy people were included. The expression of Resistin mRNA in peripheral blood mononuclear cells was detected by RT-PCR and semi-quantitative PCR assay. The sequencing work was done in Resistin cDNA and gene poly-morphism was analyzed. Results: At the same condition, in 83 diabetes patients, Resistin mRNA was detected in 23 cases (11 males and 12 females). There was no Resistin mRNA expression in 53 healthy people. The ratio of PCR products between Resistin and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) was from 0.564 to 1.238, averaging 0.804±0.436. The sequence of Resistin cDNA is almost identical with each other and with that in GenBank with no single nucleotide polymorphism being found. Conclusion: Resistin mRNA is expressed in human peripheral blood mononuclear cells in some type 2 diabetes mellitus, but its expression is at a low level. Among the experiment population we did not find polymorphism phenomenon in Resistin coding region. The different individual’s Resistin coding region is highly coincident.
文摘Xenopus organizer specific gene Noggin possessesnearly all the characterestic properties of the action of or-ganizer to specify the embryonic body axis. To analyzehow the maternal inherited factors cofltrol its expressionpattern, we cloned the 5’ regulatory region of noggn gene.The 1.5 kb upstream sequense could direct reporter geneto express in vivo and data from deletion analysis indi-cated that a 229 base pair fragmet is essential for acti-vating noggn expression. We further demonstrated thatthe response elements within this regulatory region wereindeed under the control of growth factor activin and Wntsignaling pathway components.
文摘Non-alcoholic fatty liver disease(NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma(HCC). Therefore, risk stratification emerges as fundamental in order to optimize human and economic resources, and genetics displays intrinsic characteristics suitable to fulfill this task. According to the available data, heritability estimates for hepatic fat content range from 20% to 70%, and an almost 80% of shared heritability has been found between hepatic fat content and fibrosis. The rs738409 single nucleotide polymorphism(SNP) in patatin-like phospholipase domain-containing protein 3 gene and the rs58542926 SNP in transmembrane 6 superfamily member 2 gene have been robustly associated with NAFLD and with its progression, but promising results have been obtained with many other SNPs. Moreover, there has been proof of the additive role of the different SNPs in determining liver damage, and there have been preliminary experiences in which risk scores created through a few genetic variants, alone or in combination with clinical variables, were associated with a strongly potentiated risk of NAFLD, non-alcoholic steatohepatitis(NASH), NASH fibrosis or NAFLD-HCC. However, to date, clinical translation of genetics in the field of NAFLD has been poor or absent. Fortunately, the research we have done seems to have placed us on the right path: We should rely on longitudinal rather than on cross-sectional studies; we should focus on relevant outcomes rather than on simple liver fat accumulation; and we should put together the genetic and clinical information. The hope is that combined genetic/clinical scores, derived from longitudinal studies and built on a few strong genetic variants and relevant clinical variables, will reach a significant predictive power, such as to have clinical utility for risk stratification at the single patient level and even to esteem the impact of intervention on the risk of disease-related outcomes. Well-structured future studies would demonstrate if this vision can become a reality.
文摘Serotonin (5-hydroxytryptamine, 5-HT) influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy. The serotonin transporter (5-HTT) is the most important factor in serotonin inactivation. We tested whether 5-HTT polymorphisms are involved in the pathogenesis of epilepsy in Chinese Han population. We did not find a significant difference in the frequencies of genotypes and alleles in the 5-HTT gene-linked polymorphic region (5-HTTLPR) in patients with non-lesional temporal lobe epilepsy and normal controls (P > 0.05). Frequencies of the 5-HTT intron 2 variable number tandem repeat (5-HTTVNTR) 12/12 genotype and allele 12 were higher in the patients with non-lesional temporal lobe epilepsy than normal controls (P < 0.01). The odds ratio of affecting non-lesional temporal lobe epilepsy was 1.435 (95% CI, 1.096-1.880) in patients carrying allele 12 (P < 0.05). Although the 5-HTTLPR may not be a genetic locus of non-lesional temporal lobe epilepsy in Chinese Han population, allele 12 in the 5-HTTVNTR may correlate with non-lesional temporal lobe epilepsy. The Stin2.12 allele and 12/12 genotype could be predisposing to non-lesional temporal lobe epilepsy.
基金a grant from the Foundation of Guangdong Province of Science and Technology,No. 2003C3380
文摘BACKGROUND:Serotonin transporter(5-HTT) polymorphisms comprise 5-HTT gene-linked polymorphism region(5-HTTLPR) and variable number of tandem repeats(VNTR).Studies have revealed an association between 5-HTT polymorphism and major depressive disorder,which suggests that the'S'allele of 5-HTTLPR and Stin2.9 of 5-HTTVNTR are associated with major depressive disorder.However,there are a number of studies that do not support the 5-HTT polymorphism effect in major depressive disorder. OBJECTIVE:To study the relationship between 5-HTT gene polymorphism and major depressive disorder in Chinese Han population. DESIGN,TIME AND SETTING:Case-controlled study of 5-HTT gene polymorphism.The experiment was performed at the Central Laboratory,Third Affiliated Hospital of Sun Yat-sen University,China from March 2005 to January 2006. PARTICIPANTS:A total of 99 depressive patients of Chinese Han nationality were recruited for this study.All patients met DSM-Ⅳdiagnostic criteria for major depressive disorder and had a total score of Hamilton Depression Scale(24 items)≥21 points.In addition,101 healthy subjects,matched for age and gender,served as the control group. METHODS:Venous blood was collected from all subjects.5-HTT genotypes and alleles were determined by polymerase chain reaction.Consistent with the Hardy-Weinberg equilibrium,the association between 5-HTT gene polymorphism and major depressive disorder were analyzed by Chi-square test. MAIN OUTCOME MEASURES:5-HTTLPR and 5-HTTVNTR genotypes and allele frequencies were measured. RESULTS:No significant differences in 5-HTTLPR genotypes and allele frequencies were determined between patients and controls(P>0.05).However,significant differences in 5-HTTVNTR genotypes and allele frequencies were detected(P<0.01).The Stin2.10 allele and 10/10 genotype associated with major depressive disorder(OR=2.61,7.7,P<0.05;analysis of dose-response relationships x^2=12.35,P<0.01). CONCLUSION:Results from the present study revealed no association between 5-HTTLPR and major depressive disorder.However,a significant association between 5-HTTVNTR and major depressive disorder existed in a population of Chinese Han.The presence of Stin2.10 and 10/10 genotypes increased the risk for major depressive disorder in a dose-dependent manner.
基金Supported by the National High Technology Research and Development Program of China (863) (Grant No. 2006AA10Z1E1)
文摘Myostatin is a negative regulator of skeletal muscle mass. The present study cloned the 5′ regulatory region of porcine myostatin gene, screened its polymorphisms and analyzed their associations with early growth traits in Yorkshire pigs. The results indicated that a fragment length polymorphism and a polymorphism concerning two nucleotide changes exist in the 5′ regulatory region of porcine my-ostatin gene. At sites 435 and 447, allele A and allele B have the haplotypes of A-G and G-A, respec-tively. The allelic frequency of B is 0.475 in Yorkshire pigs. No homozygous BB genotype was detected in 9 Laiwu Black pigs. Allele B was found to have positive effect on body weight on day 21 (BW21) (P<0.01), body weight on day 28 (BW28) (P<0.05), body weight on day 70 (BW70) (P<0.05), average daily gain from birth to 21 d (ADG1) (P<0.01), average daily gain from birth to 28 d (ADG2) (P<0.05) and av-erage daily gain from 21 d to 70 d (ADG3) (P<0.01), respectively. The additive effect of allele B on BW21, BW28, BW70, ADG1, ADG2 and ADG3 was 0.596±0.205 kg (P=0.0041), 0.498±0.200 kg (P=0.0136), 1.409±0.551 kg (P=0.0112), 28.39±9.74 g P=0.0041), 17.78±7.15 g (P=0.0136) and 37.00±16.92 g (P=0.0304), respectively, whereas its effect on average daily gain from 28 d to 70 d (ADG4) was not significant (P>0.1), although BB individuals are superior in average daily gain to AA and AB.
文摘The understanding of cSNPs of cancer-related genes harboring in high frequency loss regions of tumor chromosomes can advance the disclosure of genetic and variant mechanisms of tumorigenesis,and the investigation of cancer susceptibility. In preparing a gene chip for detecting polymorphisms on coding region of genes in hepatocellular carcinoma tissues, some cSNPs are of interest for their potential links with phenotype. METHODS: The genes harboring in loss regions with high frequency of hepatocellular carcinoma (HCC) were selected, the related information of cSNP sequences was obtained from the SNP database (dbSNP) of the National Center for Biotechnology Information (NCBI). Then appropriate primers and oligonucleotide probes were designed according to the SNP sites, and a gene chip for the detection of SNPs was constructed. The chip included 48 cSNPs of 25 hepatocellular carcinoma-related genes. The PCR products labeled by Dig-dUTP were hybridized with the cSNP chip. RESULTS:The sensitivity, influence by probe concentration, and reiteration of the chip were detected, with a high sensitivity of 6 × 10-3 ng/μl. The signal of hybridization was reduced with a lower concentration of probe. Seven polymorphisms of caspase 9 (rs2308941) C →T and DOK2 (rs2242241) T→G, 6 of polymorphisms of EGFL3 (rs947345) A→G, caspase 9 (rs2308938) C→G and PHGDH (rs1801955)T→A, 5 of polymorphisms of E2F2(rs3218170) G→A,4 of polymorphisms of MUTYH( rs1140507) T→C and BNIP3L(rs1055806)G→T, and 1 of polymorphism of TNFRSF1B (rs1061622)T→G were detected by the chip in the tissues of 10 HCC. Samples of caspase 9 (rs2308941G) and (rs2308941A) were verified by PCR-SSCP and sequencing. CONCLUSION:The cSNP chip of hepatocellular carcinoma-related genes can accelerate the discovery of polymorphic markers on hepatocellular carcinoma.
文摘To examine whether or not the regulatory sequence of chicken ovalbumin gene can drive transgene expression specifically in hen oviduct, the authors constructed an oviduct-specific expression vector (pOV), containing 3.0 kilobases (kb) of the 5'-flanking sequence and 3.0 kb of the 3'-flanking sequence of the chicken ovalbumin gene. Jellyfish green fluorescence protein (EGFP) reporter gene and bacterial LacZ reporter gene were respectively inserted into the downstream of the 5'-regulatory region.The recombinants were named as pOVEGFP and pOVLacZ. Two transfer systems, in vitro and in vivo, were used to verify the function of the vector. In vitro, the plasmid DNA pOVEGFP and pEGFP-N1 were transfected respectively by the polyethyleneimine procedure into the primary chicken oviduct epithelium (PCOE) and fibroblasts cells isolated from laying hens. In vivo, the recombinant vector pOVLacZ was injected into egg-laying hens via wing vein and the tissues were collected for RT-PCR analysis.The results showed that expression of pEGFP-N1 was achieved at low level in oviduct epithelial cells and at high level in fibroblasts, but that the recombinant vector was not expressed in both cells. RT-PCR analysis showed that the LacZ gene was transcribed in the oviduct, but not in the heart, liver, kidney and spleen of the injected hens. Accordingly, the ?-galactosidase activity was only detected in the oviduct magnum (116.7 mU/ml) and eggs (16.47 mU/ml). These results indicated that the cloned regulation regions of chicken ovalbumin gene could drive exogenous gene expression specifically in the oviducts of hens. In vivo gene injection via wing vein may serve as a rapid production system of recombinant proteins in chicken eggs. In addition, the cultured primary oviduct cells from laying hens were not efficient temporary expression systems for analyzing the function of regulating elements of ovalbumin gene.
基金supported by a grant from a major program of Zhejiang Province Commission of Science and Technologythe National Natural Science Foundation of China under contract No.2005C23085.
文摘The α- and β-globin genes from Pseudosciaena crocea were cloned by rapid amplification of cDNA 3′-end (3′-RACE). The cDNA of the α-globin is 595 bp with the ATG start codon located at Position 37, the TAA stop codon at Position 469 and the AATAAA polyadenylation signal at Position 560, which codifies 145 amino acids. The entire open reading frame of the β-globin gene is 447 bp long, which encodes 148 amino acids. Amino acid identity of the α- globin or β-globin gene compared with those reported in other fish species, ranged from 31.9% to 76.4%. When comparing with human α- and β-globins, three important alterations in the structural regions can be noted: α39 Thr→Gln, α113 His→Tyr and β117 His→Lys. The α-globin has a unique inserted amino acid residue in the 47th position. To understand the process of globin gene duplication and identify the regulatory elements present in the intergenic and intragenic regions of globin genes, the genomic arrangement of α- and β-globin genes was investigated. The results showed that the orientation of the two genes was head-to-head relative to each other. The intergenic region between the translation initiation codons of the linked α- and β-globin genes contains classical promoter elements and the length of it is much shorter than that reported in other fish.
基金Supported by National Institutes of Health(NIH/NIDDK),Nos.R01 DK090111 and DK039311
文摘Type 2 diabetes(T2D) is a common metabolic disorder which is caused by multiple genetic perturbations affecting different biological pathways. Identifying genetic factors modulating the susceptibility of this complex heterogeneous metabolic phenotype in different ethnic and racial groups remains challenging. Despite recent success, the functional role of the T2D susceptibility variants implicated by genome-wide association studies(GWAS) remains largely unknown. Genetic dissection of transcript abundance or expression quantitative trait(eQTL) analysis unravels the genomic architecture of regulatory variants. Availability of eQTL information from tissues relevant for glucose homeostasis in humans opens a new avenue to prioritize GWASimplicated variants that may be involved in triggering a causal chain of events leading to T2D. In this article, we review the progress made in the field of eQTL research and knowledge gained from those studies in understanding transcription regulatory mechanisms in human subjects. We highlight several novel approaches that can integrate eQTL analysis with multiple layers of biological information to identify ethnic-specific causal variants and gene-environment interactions relevant to T2D pathogenesis. Finally, we discuss how the eQTL analysis mediated search for "missing heritability" may lead us to novel biological and molecular mechanisms involved in susceptibility to T2D.
基金Sopported by the National Nature Science Foundation grant of P. R. China( 39880 0 31)
文摘hap , a novel human apoptosis inducing gene which can interact with another newly discovered apoptosis inducing gene ASY, was identified by cloning its cDNAs from human lung cell line (WI 38) cDNA library. Two major mRNA species (1.8 and 2.7 kb in length, respectively) were previously identified by Northern blot analysis of poly(A) + RNA from human multiple tissues using partial hap cDNA as a probe. In the present work, the molecular mechanism accounting for the generation of the two hap transcripts were investigated. The rapid amplification of cDNA 3’\|ends (3’ RACE) technique and the sequential Southern blot analysis, in conjunction with the sequencing analysis demonstrated that the two hap transcripts derive from the alternative polyadenylation site selection: a AATAAA signal at position 1 528 1 533 nt for the 1.8 kb hap mRNA; and a AATAAA signal at position 2 375 2 380 nt for the 2.7 kb hap mRNA. Furthermore, a number of regulatory elements within hap 3’ untranslated region (3’\|UTR) were also examined.
