Background:Atrial septal defect(ASD)is one of the common congenital heart diseases.The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been expl...Background:Atrial septal defect(ASD)is one of the common congenital heart diseases.The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored.Methods:In 613 subjects including 320 ASD patients,we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis.Results:Eleven variants were identified in the MYH6 gene promoter,of which four variants were found only in ASD patients,and two variants(g.3434G>C and g.4524C>T)were identified for the first time.Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the MYH6 gene promoter(p<0.05).Subsequent analysis through the JASPAR(A database of transcription factor binding profiles)suggests that these variants may alter transcription factor binding sites,which may in turn lead to changes in myocardin subunit expression and ASD formation.Conclusions:Our study for the first time focuses on variants in the promoter region of the MYH6 gene in Chinese patients with ASD and the discovered variants have functional significance.The study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of ASD formation and facilitates clinical diagnosis.展开更多
The integrated circuit chip with high performance has a high sensitivity to the defects in manufacturing environments.When there are defects on a wafer,the defects may lead to the degradation of chip performance.It is...The integrated circuit chip with high performance has a high sensitivity to the defects in manufacturing environments.When there are defects on a wafer,the defects may lead to the degradation of chip performance.It is necessary to design effective detection approaches for the defects in order to ensure the reliability of wafer.In this paper,a new method based on image boundary extraction is presented for the detection of defects on a wafer.The method uses island model genetic algorithms to perform the segmentation of wafer images,and gets the optimal threshold values.The island model genetic algorithm uses two distinct subpopulations,it is a coarse grain parallel model.The individuals migration can occur between the two subpopulations to share genetic materials.A lot of experimental results show that the defect detection method proposed in this paper can obtain the features of defects effectively.展开更多
Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally,multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This studyinvest...Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally,multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This studyinvestigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHDand the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromicCHD aged <18 years underwent WES between May 2018 and December 2020 in a single tertiary center,and the association between genetic testing data and extracardiac phenotypes was analyzed. Results: Extracardiacphenotypes were measured as 3.66 ± 3.05 (standard deviation, interquartile range: 2–5) items per patient. WESdetected diagnostic variants in 19 (29.7%) patients: seven (36.8%), seven (36.8%), and five (26.3%) with pathogenicvariants, likely pathogenic variants, and variants of unknown significance, respectively. Post-diagnosis surveillanceidentified the extracardiac phenotype in 54.5% (6/11) of patients. De novo variants accounted for 76.2%(15/19) of variants and autosomal dominant inheritance for 94.7% (18/19). Most diseases were ultra-rare. No significantdifferences were noted in cardiac and extracardiac phenotypes, single or combined (all P > 0.05), betweenthe groups with and without a diagnostic variant. However, patients with ≥3 extracardiac phenotypes had a significantlyhigher likelihood of having a diagnostic variant than those with ≤2 (38.3% vs. 5.9%, odds ratio = 9.93,95% confidence interval = 1.21–81.44, P = 0.013). Conclusions: The number of extracardiac phenotypes is importantin predicting the possibility of genetic diagnosis. Physicians will be able to select patients with a high probabilityof genetic diagnosis and provide appropriate genetic counseling based on the results of this study.展开更多
Recurring miscarriage(RM)is a frustrating reproductive complication with variable etiology.Numerous genetic defects have been known to play a crucial role in the etiology of RM.Chromosomal abnormalities are frequently...Recurring miscarriage(RM)is a frustrating reproductive complication with variable etiology.Numerous genetic defects have been known to play a crucial role in the etiology of RM.Chromosomal abnormalities are frequently detected,while other genetic defects cannot be diagnosed through routine research,such as cryptic chromosomal anomalies,single nucleotide polymorphism,single-gene defect,and gene copy number variation.Diagnostic laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of conception.Here we aim to summarize the known genetic causes of RM,with a focus on the new diagnostic techniques.Knowledge of the genetic profile of miscarriages is important for prognosis and potential counseling planning,as well as the prenatal diagnostic strategy in subsequent pregnancies.展开更多
The present study involved a questionnaire survey of 156 mothers that gave birth to children with neural tube defects or had a history of pregnancy resulting in children with neural tube defects (case group) and 156 c...The present study involved a questionnaire survey of 156 mothers that gave birth to children with neural tube defects or had a history of pregnancy resulting in children with neural tube defects (case group) and 156 control mothers with concurrent healthy children (control group) as well as detection of mitochondrial membrane transporter protein gene [uncoupling protein 2 (UCP2)] polymorphism. The maternal UCP2 3' untranslated region (UTR) D/D genotype and D allele frequency were significantly higher in the case group compared with the control group (odds ratio (OR) 3.233; 95% confidence interval (CI) 1.103-9.476; P = 0.040; OR: 3.484; 95% CI: for neural tube defects 2.109-5.753; P < 0.001). Univariate and multivariate logistic regression analysis of risk factors for neural tube defects showed that a maternal UCP2 3' UTR D/D genotype was negatively interacted with the mothers' consumption of frequent fresh fruit and vegetables (S = 0.007), positively interacted with the mothers' frequency of germinated potato consumption (S = 2.15) and positively interacted with the mothers' body mass index (S = 3.50). These findings suggest that maternal UCP2 3' UTR gene polymorphism, pregnancy time, consumption of germinated potatoes and body mass index are associated with an increased risk for neural tube defects in children from mothers living in Shanxi province, China. Moreover, there is an apparent gene-environment interaction involved in the development of neural tube defects in offspring.展开更多
Purpose : To investigate correlation of variation in the exon 5 of red and green pigment genes with color vision defects.Methods : Exon 5 of the red and green pigment genes in 11 protans, 19 deutans and 38 normal cont...Purpose : To investigate correlation of variation in the exon 5 of red and green pigment genes with color vision defects.Methods : Exon 5 of the red and green pigment genes in 11 protans, 19 deutans and 38 normal controls were analyzed by heteroduplux-SSCP analysis.Results : In all 11 protans and 8 of the 19 deutans, defects of the red or green pigment gene could be identified. The C polymorphism (A/C at codon 283) in green pigment gene was present in 8 of 44 trichromats and 5 of 24 dichromats. Specific electrophoretic bands were found in 2 normal controls and a deutan.Conclusions: Variation in the exon 5 of the red and green pigment genes is the most common cause for color vision defects. Heteroduplex-SSCP analysis is a suitable way in screening specific variation in visual pigment genes. Eye Science 1998; 14 : 130 - 133.展开更多
Software defect prediction is a research hotspot in the field of software engineering.However,due to the limitations of current machine learning algorithms,we can’t achieve good effect for defect prediction by only u...Software defect prediction is a research hotspot in the field of software engineering.However,due to the limitations of current machine learning algorithms,we can’t achieve good effect for defect prediction by only using machine learning algorithms.In previous studies,some researchers used extreme learning machine(ELM)to conduct defect prediction.However,the initial weights and biases of the ELM are determined randomly,which reduces the prediction performance of ELM.Motivated by the idea of search based software engineering,we propose a novel software defect prediction model named KAEA based on kernel principal component analysis(KPCA),adaptive genetic algorithm,extreme learning machine and Adaboost algorithm,which has three main advantages:(1)KPCA can extract optimal representative features by leveraging a nonlinear mapping function;(2)We leverage adaptive genetic algorithm to optimize the initial weights and biases of ELM,so as to improve the generalization ability and prediction capacity of ELM;(3)We use the Adaboost algorithm to integrate multiple ELM basic predictors optimized by adaptive genetic algorithm into a strong predictor,which can further improve the effect of defect prediction.To effectively evaluate the performance of KAEA,we use eleven datasets from large open source projects,and compare the KAEA with four machine learning basic classifiers,ELM and its three variants.The experimental results show that KAEA is superior to these baseline models in most cases.展开更多
Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and t...Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors propose a comprehensive carrier screening program as a main component of the first-tier measure in preventing severe genetic disorders and birth defects in China. We discussed the key principles and important aspects to ensure the success of such a program. The authors believe this program will play a pivotal role in our endeavor for a healthier nation.展开更多
Considering that the surface defects of cold rolled strips are hard to be recognized by human eyes under high-speed cir- cumstances, an automatic recognition technique was discussed. Spectrum images of defects can be ...Considering that the surface defects of cold rolled strips are hard to be recognized by human eyes under high-speed cir- cumstances, an automatic recognition technique was discussed. Spectrum images of defects can be got by fast Fourier transform (FFT) and sum of valid pixels (SVP), and its optimized center region, which concentrates nearly all energies, are extracted as an original feature set. Using genetic algorithm to optimize the feature set, an optimized feature set with 51 features can be achieved. Using the optimized feature set as an input vector of neural networks, the recognition effects of LVQ neural networks have been studied. Experiment results show that the new method can get a higher classification rate and can settle the automatic recognition problem of surface defects on cold rolled strips ideally.展开更多
基金This study involving human participants was reviewed and approved by the ethics committee of TEDA International Cardiovascular Hospital,China(No.0715-4,2021,02 August 2021)the National Natural Science Foundation of China[82170353&81870288]+4 种基金the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences[2020-PT310-007]Tianjin Municipal and Binhai New Area Health Commissions[KJ20071&2019BWKY010]Tianjin Science and Technology Project[18PTZWHZ00060]TEDA International Cardiovascular Hospital[2021-TD-006&2021-ZX-002&2019-TD-013]Tianjin Key Medical Discipline(Specialty)Construction Project[TJYXZDXK-019A].
文摘Background:Atrial septal defect(ASD)is one of the common congenital heart diseases.The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored.Methods:In 613 subjects including 320 ASD patients,we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis.Results:Eleven variants were identified in the MYH6 gene promoter,of which four variants were found only in ASD patients,and two variants(g.3434G>C and g.4524C>T)were identified for the first time.Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the MYH6 gene promoter(p<0.05).Subsequent analysis through the JASPAR(A database of transcription factor binding profiles)suggests that these variants may alter transcription factor binding sites,which may in turn lead to changes in myocardin subunit expression and ASD formation.Conclusions:Our study for the first time focuses on variants in the promoter region of the MYH6 gene in Chinese patients with ASD and the discovered variants have functional significance.The study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of ASD formation and facilitates clinical diagnosis.
基金supported by Guangdong Provincial Natural Science Foundation of China (7005833)
文摘The integrated circuit chip with high performance has a high sensitivity to the defects in manufacturing environments.When there are defects on a wafer,the defects may lead to the degradation of chip performance.It is necessary to design effective detection approaches for the defects in order to ensure the reliability of wafer.In this paper,a new method based on image boundary extraction is presented for the detection of defects on a wafer.The method uses island model genetic algorithms to perform the segmentation of wafer images,and gets the optimal threshold values.The island model genetic algorithm uses two distinct subpopulations,it is a coarse grain parallel model.The individuals migration can occur between the two subpopulations to share genetic materials.A lot of experimental results show that the defect detection method proposed in this paper can obtain the features of defects effectively.
基金This work was supported by an Institute for Information and CommunicationsTechnology Promotion (IITP) grant funded by the Korean Government (MSIT) (2018-0-00861,Intelligent SW Technology Development for Medical Data Analysis).
文摘Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally,multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This studyinvestigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHDand the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromicCHD aged <18 years underwent WES between May 2018 and December 2020 in a single tertiary center,and the association between genetic testing data and extracardiac phenotypes was analyzed. Results: Extracardiacphenotypes were measured as 3.66 ± 3.05 (standard deviation, interquartile range: 2–5) items per patient. WESdetected diagnostic variants in 19 (29.7%) patients: seven (36.8%), seven (36.8%), and five (26.3%) with pathogenicvariants, likely pathogenic variants, and variants of unknown significance, respectively. Post-diagnosis surveillanceidentified the extracardiac phenotype in 54.5% (6/11) of patients. De novo variants accounted for 76.2%(15/19) of variants and autosomal dominant inheritance for 94.7% (18/19). Most diseases were ultra-rare. No significantdifferences were noted in cardiac and extracardiac phenotypes, single or combined (all P > 0.05), betweenthe groups with and without a diagnostic variant. However, patients with ≥3 extracardiac phenotypes had a significantlyhigher likelihood of having a diagnostic variant than those with ≤2 (38.3% vs. 5.9%, odds ratio = 9.93,95% confidence interval = 1.21–81.44, P = 0.013). Conclusions: The number of extracardiac phenotypes is importantin predicting the possibility of genetic diagnosis. Physicians will be able to select patients with a high probabilityof genetic diagnosis and provide appropriate genetic counseling based on the results of this study.
文摘Recurring miscarriage(RM)is a frustrating reproductive complication with variable etiology.Numerous genetic defects have been known to play a crucial role in the etiology of RM.Chromosomal abnormalities are frequently detected,while other genetic defects cannot be diagnosed through routine research,such as cryptic chromosomal anomalies,single nucleotide polymorphism,single-gene defect,and gene copy number variation.Diagnostic laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of conception.Here we aim to summarize the known genetic causes of RM,with a focus on the new diagnostic techniques.Knowledge of the genetic profile of miscarriages is important for prognosis and potential counseling planning,as well as the prenatal diagnostic strategy in subsequent pregnancies.
基金sponsored by the National Natural Science Foundation of China, No. 31140012, 31040056,31140079the Natural Science Foundation of Shanxi Province,No. 2006011113
文摘The present study involved a questionnaire survey of 156 mothers that gave birth to children with neural tube defects or had a history of pregnancy resulting in children with neural tube defects (case group) and 156 control mothers with concurrent healthy children (control group) as well as detection of mitochondrial membrane transporter protein gene [uncoupling protein 2 (UCP2)] polymorphism. The maternal UCP2 3' untranslated region (UTR) D/D genotype and D allele frequency were significantly higher in the case group compared with the control group (odds ratio (OR) 3.233; 95% confidence interval (CI) 1.103-9.476; P = 0.040; OR: 3.484; 95% CI: for neural tube defects 2.109-5.753; P < 0.001). Univariate and multivariate logistic regression analysis of risk factors for neural tube defects showed that a maternal UCP2 3' UTR D/D genotype was negatively interacted with the mothers' consumption of frequent fresh fruit and vegetables (S = 0.007), positively interacted with the mothers' frequency of germinated potato consumption (S = 2.15) and positively interacted with the mothers' body mass index (S = 3.50). These findings suggest that maternal UCP2 3' UTR gene polymorphism, pregnancy time, consumption of germinated potatoes and body mass index are associated with an increased risk for neural tube defects in children from mothers living in Shanxi province, China. Moreover, there is an apparent gene-environment interaction involved in the development of neural tube defects in offspring.
基金This work was supported by the National Natural Science Foundation of China (39670776 Qingjiong Zhang) and the Returnee Startup Foundation of National Educational Committee of China (Qingjiong Zhang)
文摘Purpose : To investigate correlation of variation in the exon 5 of red and green pigment genes with color vision defects.Methods : Exon 5 of the red and green pigment genes in 11 protans, 19 deutans and 38 normal controls were analyzed by heteroduplux-SSCP analysis.Results : In all 11 protans and 8 of the 19 deutans, defects of the red or green pigment gene could be identified. The C polymorphism (A/C at codon 283) in green pigment gene was present in 8 of 44 trichromats and 5 of 24 dichromats. Specific electrophoretic bands were found in 2 normal controls and a deutan.Conclusions: Variation in the exon 5 of the red and green pigment genes is the most common cause for color vision defects. Heteroduplex-SSCP analysis is a suitable way in screening specific variation in visual pigment genes. Eye Science 1998; 14 : 130 - 133.
基金This work is supported in part by the National Science Foundation of China(61672392,61373038)in part by the National Key Research and Development Program of China(No.2016YFC1202204).
文摘Software defect prediction is a research hotspot in the field of software engineering.However,due to the limitations of current machine learning algorithms,we can’t achieve good effect for defect prediction by only using machine learning algorithms.In previous studies,some researchers used extreme learning machine(ELM)to conduct defect prediction.However,the initial weights and biases of the ELM are determined randomly,which reduces the prediction performance of ELM.Motivated by the idea of search based software engineering,we propose a novel software defect prediction model named KAEA based on kernel principal component analysis(KPCA),adaptive genetic algorithm,extreme learning machine and Adaboost algorithm,which has three main advantages:(1)KPCA can extract optimal representative features by leveraging a nonlinear mapping function;(2)We leverage adaptive genetic algorithm to optimize the initial weights and biases of ELM,so as to improve the generalization ability and prediction capacity of ELM;(3)We use the Adaboost algorithm to integrate multiple ELM basic predictors optimized by adaptive genetic algorithm into a strong predictor,which can further improve the effect of defect prediction.To effectively evaluate the performance of KAEA,we use eleven datasets from large open source projects,and compare the KAEA with four machine learning basic classifiers,ELM and its three variants.The experimental results show that KAEA is superior to these baseline models in most cases.
文摘Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors propose a comprehensive carrier screening program as a main component of the first-tier measure in preventing severe genetic disorders and birth defects in China. We discussed the key principles and important aspects to ensure the success of such a program. The authors believe this program will play a pivotal role in our endeavor for a healthier nation.
基金This work was financially supported by the National High Technology Research and Development Program of China (No.2003AA331080 and 2001AA339030)the Talent Science Research Foundation of Henan University of Science & Technology (No.09001121).
文摘Considering that the surface defects of cold rolled strips are hard to be recognized by human eyes under high-speed cir- cumstances, an automatic recognition technique was discussed. Spectrum images of defects can be got by fast Fourier transform (FFT) and sum of valid pixels (SVP), and its optimized center region, which concentrates nearly all energies, are extracted as an original feature set. Using genetic algorithm to optimize the feature set, an optimized feature set with 51 features can be achieved. Using the optimized feature set as an input vector of neural networks, the recognition effects of LVQ neural networks have been studied. Experiment results show that the new method can get a higher classification rate and can settle the automatic recognition problem of surface defects on cold rolled strips ideally.
