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FAREY SEQUENCE OF NONLINEAR DIFFERENTIAL DYNAMIC SYSTEM IN TWO DIMENSIONS 被引量:1
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作者 H. Q. Jin and S. N. Xu Shenyang Institute of Technology , Shenyang 110015 , China 《Acta Metallurgica Sinica(English Letters)》 SCIE EI CAS CSCD 1999年第5期1234-1236,共3页
In this paper , through the discrim ination of Farey sequence in the forced Brusselator withweak coupling , it is proved that there is a topological translation fro m a nonlinear differen tial system ( limit cycle)... In this paper , through the discrim ination of Farey sequence in the forced Brusselator withweak coupling , it is proved that there is a topological translation fro m a nonlinear differen tial system ( limit cycle) to the circle m ap . 展开更多
关键词 non - linearity Farey sequence phase lock CHAOS
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Interval grey number sequence prediction by using non-homogenous exponential discrete grey forecasting model 被引量:19
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作者 Naiming Xie Sifeng Liu 《Journal of Systems Engineering and Electronics》 SCIE EI CSCD 2015年第1期96-102,共7页
This paper aims to study a new grey prediction approach and its solution for forecasting the main system variable whose accurate value could not be collected while the potential value set could be defined. Based on th... This paper aims to study a new grey prediction approach and its solution for forecasting the main system variable whose accurate value could not be collected while the potential value set could be defined. Based on the traditional nonhomogenous discrete grey forecasting model(NDGM), the interval grey number and its algebra operations are redefined and combined with the NDGM model to construct a new interval grey number sequence prediction approach. The solving principle of the model is analyzed, the new accuracy evaluation indices, i.e. mean absolute percentage error of mean value sequence(MAPEM) and mean percent of interval sequence simulating value set covered(MPSVSC), are defined and, the procedure of the interval grey number sequence based the NDGM(IG-NDGM) is given out. Finally, a numerical case is used to test the modelling accuracy of the proposed model. Results show that the proposed approach could solve the interval grey number sequence prediction problem and it is much better than the traditional DGM(1,1) model and GM(1,1) model. 展开更多
关键词 grey number grey system theory INTERVAL discrete grey forecasting model non-homogeneous exponential sequence
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The maxima and sums of multivariate non-stationary Gaussian sequences 被引量:1
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作者 TAN Zhong-quan YANG Yang 《Applied Mathematics(A Journal of Chinese Universities)》 SCIE CSCD 2015年第2期197-209,共13页
Let {Xkl,…, Xkp, k≥ 1} be a p-dimensional standard (zero-means, unit-variances)non-stationary Gaussian vector sequence. In this work, the joint limit distribution of the maximaof {Xkl,…, Xkp, k 〉 1}, the incompl... Let {Xkl,…, Xkp, k≥ 1} be a p-dimensional standard (zero-means, unit-variances)non-stationary Gaussian vector sequence. In this work, the joint limit distribution of the maximaof {Xkl,…, Xkp, k 〉 1}, the incomplete maxima of those sequences subject to random failureand the partial sums of those sequences are obtained. 展开更多
关键词 Maxima sum multivariate Gaussian sequence non-stationary strongly dependent
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Non-coherent sequence detection scheme for satellite-based automatic identification system 被引量:1
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作者 Haosu Zhou Jianxin Wang 《Journal of Systems Engineering and Electronics》 SCIE EI CSCD 2017年第3期442-448,共7页
The satellite-based automatic identification system (AIS) receiver has to encounter the frequency offset caused by the Doppler effect and the oscillator instability. This paper proposes a non-coherent sequence detecti... The satellite-based automatic identification system (AIS) receiver has to encounter the frequency offset caused by the Doppler effect and the oscillator instability. This paper proposes a non-coherent sequence detection scheme for the satellite-based AIS signal transmitted over the white Gaussian noise channel. Based on the maximum likelihood estimation and a Viterbi decoder, the proposed scheme is capable of tolerating a frequency offset up to 5% of the symbol rate. The complexity of the proposed scheme is reduced by the state-complexity reduction, which is based on per-survivor processing. Simulation results prove that the proposed non-coherent sequence detection scheme has high robustness to frequency offset compared to the relative scheme when messages collision exists. 展开更多
关键词 non-coherent sequence detection scheme satellite based automatic identification system frequency offset messages collision Viterbi decoder
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Non-Supervised Learning for Spread Spectrum Signal Pseudo-Noise Sequence Acquisition
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作者 Hao Cheng Na Yu Tai-Jun Wang 《Journal of Electronic Science and Technology》 CAS CSCD 2015年第1期83-86,共4页
An idea of estimating the direct sequence spread spectrum(DSSS) signal pseudo-noise(PN) sequence is presented. Without the apriority knowledge about the DSSS signal in the non-cooperation condition, we propose a s... An idea of estimating the direct sequence spread spectrum(DSSS) signal pseudo-noise(PN) sequence is presented. Without the apriority knowledge about the DSSS signal in the non-cooperation condition, we propose a self-organizing feature map(SOFM) neural network algorithm to detect and identify the PN sequence. A non-supervised learning algorithm is proposed according the Kohonen rule in SOFM. The blind algorithm can also estimate the PN sequence in a low signal-to-noise(SNR) and computer simulation demonstrates that the algorithm is effective. Compared with the traditional correlation algorithm based on slip-correlation, the proposed algorithm's bit error rate(BER) and complexity are lower. 展开更多
关键词 Blind estimation direct sequence spread spectrum signal non-supervised learning pseudo-noise sequence
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Computational Molecular Analysis of the Sequences of BMP15 Gene of Ruminants and Non-Ruminants
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作者 Bwaseh S. Bibinu Abdulmojeed Yakubu +1 位作者 Steven B. Ugbo Ndu I. Dim 《Open Journal of Genetics》 2016年第2期39-50,共12页
Bone morphogenetic protein 15 (BMP15) is a member of the transforming growth factor β (TGFβ) super family that is expressed by oocytes and plays key roles in granulosa cell development and fertility in animal. This ... Bone morphogenetic protein 15 (BMP15) is a member of the transforming growth factor β (TGFβ) super family that is expressed by oocytes and plays key roles in granulosa cell development and fertility in animal. This study investigated the molecular genetic variation of BMP15 gene of some selected mammalian species with a view to providing relevant genetic information for breeding and selection programmes in the studied species using computational methods. A total of thirty seven (37) BMP15 nucleotide sequences comprising goats (18), sheep (6), cattle (6), swine (4) and chicken (3) were retrieved from the GenBank. Sequence alignment, translation and comparison of the BMP15 gene of the various species were done with ClustalW. High degree of polymorphism of BMP15 gene was observed among the studied species. The significant value (P bovidae family (goat, sheep and cattle). The present information could guide future efforts involving selection of markers of fecundity to improve genetically livestock species in Nigeria. 展开更多
关键词 BMP15 sequenceS SNPs PHYLOGENY RUMINANTS non-Ruminants
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Method of Designing Generators of Pseudorandom Sequences for Information Protection Based on Shift Register with Non-Linear Feedback Function
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作者 Saleh Al-Omar 《Journal of Information Security》 2014年第4期218-227,共10页
This paper proposes an efficient, high-tech method of construction of pseudorandom binary sequences generators with a repetition period 2n?for n-bit shift register with a nonlinear feedback function. The developed met... This paper proposes an efficient, high-tech method of construction of pseudorandom binary sequences generators with a repetition period 2n?for n-bit shift register with a nonlinear feedback function. The developed method is illustrated by constructing a nonlinear function feedback shift register. It is proved that the offered method requires the realization of a memory size proportional to n2?that allows making successful use of suitable generators for practical use on the shift register of the longer word. 展开更多
关键词 PSEUDORANDOM sequenceS non-LINEAR FEEDBACK FUNCTION Information Protection
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Bifurcations and Sequences of Elements in Non-Smooth Systems Cycles
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作者 Ivan Arango Fabio Pineda Oscar Ruiz 《American Journal of Computational Mathematics》 2013年第3期222-230,共9页
This article describes the implementation of a novel method for detection and continuation of bifurcations in non-smooth complex dynamic systems. The method is an alternative to existing ones for the follow-up of asso... This article describes the implementation of a novel method for detection and continuation of bifurcations in non-smooth complex dynamic systems. The method is an alternative to existing ones for the follow-up of associated phenomena, precisely in the circumstances in which the traditional ones have limitations (simultaneous impact, Filippov and first derivative discontinuities and multiple discontinuous boundaries). The topology of cycles in non-smooth systems is determined by a group of ordered segments and points of different regions and their boundaries. In this article, we compare the limit cycles of non-smooth systems against the sequences of elements, in order to find patterns. To achieve this goal, a method was used, which characterizes and records the elements comprising the cycles in the order that they appear during the integration process. The characterization discriminates: a) types of points and segments;b) direction of sliding segments;and c) regions or discontinuity boundaries to which each element belongs. When a change takes place in the value of a parameter of a system, our comparison method is an alternative to determine topological changes and hence bifurcations and associated phenomena. This comparison has been tested in systems with discontinuities of three types: 1) impact;2) Filippov and 3) first derivative discontinuities. By coding well-known cycles as sequences of elements, an initial comparison database was built. Our comparison method offers a convenient approach for large systems with more than two regions and more than two sliding segments. 展开更多
关键词 BIFURCATION sequenceS non-SMOOTH SYSTEMS LIMIT Cycles Dynamic SYSTEMS
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Auto-selection order of Markov chain for background sequences with chi-square test
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作者 谢雪英 孙啸 陆祖宏 《Journal of Southeast University(English Edition)》 EI CAS 2003年第4期311-316,共6页
Modeling non coding background sequences appropriately is important for the detection of regulatory elements from DNA sequences. Based on the chi square statistic test, some explanations about why to choose higher ... Modeling non coding background sequences appropriately is important for the detection of regulatory elements from DNA sequences. Based on the chi square statistic test, some explanations about why to choose higher order Markov chain model and how to automatically select the proper order are given in this paper. The chi square test is first run on synthetic data sets to show that it can efficiently find the proper order of Markov chain. Using chi square test, distinct higher order context dependences inherent in ten sets of sequences of yeast S.cerevisiae from other literature have been found. So the Markov chain with higher order would be more suitable for modeling the non coding background sequences than an independent model. 展开更多
关键词 non coding sequences regulatory elements chi square test Markov chain
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Impact of next-generation sequencing on molecular diagnosis of inherited non-syndromic hearing loss 被引量:1
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作者 Xue Gao Pu Dai 《Journal of Otology》 2014年第3期122-125,共4页
Hearing loss is one of the most common birth defects,with inherited genetic defects play an important role,contributing to about 60%of deafness occurring in infants.However,hearing impairment is genetically heterogene... Hearing loss is one of the most common birth defects,with inherited genetic defects play an important role,contributing to about 60%of deafness occurring in infants.However,hearing impairment is genetically heterogeneous,with both common and rare forms occurring due to mutations in estimated 500 genes.Due to the large number and presumably low mutation frequencies of those genes,it would be highly expensive and time-consuming to address this issue by conventional gene-by-gene Sanger sequencing.Next-generation sequencing is a revolutionary technology that allows the simultaneous screening of mutations in a large number of genes.It is cost effective compared to classical strategies of linkage analysis and direct sequencing when the number or size of genes is large,and thus has become a highly efficient strategy for identifying novel causative genes and mutations involved in heritable disease.In this review, we describe major NGS methodologies currently used for genetic disorders and highlight applications of these technologies in studies of molecular diagnosis and the discovery of genes implicated in non-syndromic hearing loss. 展开更多
关键词 Next-generation sequencing Molecular diagnosis Inherited non-syndromic hearing loss Whole genome sequencing Whole exome sequencing
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MULTIDIMENSIONAL MULTI-KNOTS PIECEWISE LINEAR SPECTRAL SEQUENCES 被引量:2
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作者 Yan Gu Rui Wang DunyanYan 《Analysis in Theory and Applications》 2010年第4期367-382,共16页
Motivated by representing multidimensional periodic nonlinear and non-stationary signals (functions), we study a class of orthonormal exponential basis for L2(Id) with I := [0, 1), whose exponential parts are pi... Motivated by representing multidimensional periodic nonlinear and non-stationary signals (functions), we study a class of orthonormal exponential basis for L2(Id) with I := [0, 1), whose exponential parts are piecewise linear spectral sequences with p-knots. It is widely applied in time-frequency analysis. 展开更多
关键词 multidimensional piecewise linear spectral sequence orthonormal exponen-tial basis non-constant frequency
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ON THE MINLP APPROACH FOR OPTIMAL DESIGN OF CHEMICAL ENGINEERING SYSTEMS(Ⅱ)SYNTHESIS OF DISTILLATION SEQUENCES
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作者 袁希钢 余国琮 《Chinese Journal of Chemical Engineering》 SCIE EI CAS CSCD 1996年第1期42-51,共10页
In this paper the MINLP method proposed in Part(Ⅰ)is illustrated by applying it tothe synthesis problem of non-sharp distillation sequences.A MINLP formulation for the synthesis ofdistillation sequences with non-shar... In this paper the MINLP method proposed in Part(Ⅰ)is illustrated by applying it tothe synthesis problem of non-sharp distillation sequences.A MINLP formulation for the synthesis ofdistillation sequences with non-sharp separation is proposed.In this formulation the recoveries of thekey components are introduced as optimization variables and this makes it possible to synthesize adistillation sequence with specified component recoveries,and at the same time,renders the MINLPproblem nonconvex.The solution procedure is illustrated with three example problems. 展开更多
关键词 non-sharp DISTILLATION sequenceS MINLP FORMULATION OPTIMUM synthesis
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rDNA Sequencing and Preliminary Analysis of Microorganisms from Diseased Edible Fungus Using Non-culture Technology
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作者 Yao Qiang Gong Zhiyuan +6 位作者 Gao Neng Han Jiandong Wan Luzhang Ren Pengfei Liu Xiao Huang Chunyan Ren Haixia 《Plant Diseases and Pests》 CAS 2014年第1期13-16,共4页
The metagenomic DNA of disease tissue samples from four kinds of major edible fungus was extracted by CTAB method combined with DNA gel recovery kit. The genomie DNA was amplified by polymerase chain reaction using th... The metagenomic DNA of disease tissue samples from four kinds of major edible fungus was extracted by CTAB method combined with DNA gel recovery kit. The genomie DNA was amplified by polymerase chain reaction using the universal primers of 16S rDNA and 18S rDNA, and then mone, elonal sequenced after ligated and transformed, rDNA sequences of 20 positive clones were selected randomly from each pair of primers for sequence alignment. The results showed that there were two bacterial diseases and two fungul diseases in the samples, respectively. 展开更多
关键词 non-culture Edible fungus disease rDNA sequence analysis
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Comparison of next generation sequencing-based and methylated DNA immunoprecipitation-based approaches for fetal aneuploidy non-invasive prenatal testing
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作者 Georgia Christopoulou Elisavet A Papageorgiou +1 位作者 Philippos C Patsalis Voula Velissariou 《World Journal of Medical Genetics》 2015年第2期23-27,共5页
Over the past few years, many researchers have attempted to develop non-invasive prenatal testing methods in order to investigate the genetic status of the fetus. The aim is to avoid invasive procedures such as chorio... Over the past few years, many researchers have attempted to develop non-invasive prenatal testing methods in order to investigate the genetic status of the fetus. The aim is to avoid invasive procedures such as chorionic villus and amniotic fluid sampling, which result in a significant risk for pregnancy loss. The discovery of cell free fetal DNA circulating in the maternal blood has great potential for the development of non-invasive prenatal testing(NIPT) methodologies. Such strategies have been successfully applied for the determination of the fetal rhesus status and inherited monogenic disease but the field of fetal aneuploidy investigation seems to be more challenging. The main reason for this is that the maternal cell free DNA in the mother's plasma is far more abundant, and because it is identical to half of the corresponding fetal DNA. Approaches developed are mainly based on next generation sequencing(NGS) technologies and epigenetic genetic modifications, such as fetal-maternal DNA differential methylation. At present, genetic services for non-invasive fetal aneuploidy detection are offered using NGS-based approaches but, for reasons that are presented herein, they still serve as screening tests which are not readily accessed by the majority of couples. Here we discuss the limitations of both strategies for NIPT and the future potential of the methods developed. 展开更多
关键词 Next generation sequencing Differential METHYLATION Epigenetics Fetal ANEUPLOIDY METHYLATION dependent IMMUNOPRECIPITATION non-INVASIVE prenatal testing
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高通量测序分析B细胞非霍奇金淋巴瘤IGH基因克隆性重排特点及临床应用价值
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作者 马强 邹东梅 +4 位作者 郭轶先 赵弘 常晓丽 胡蓉华 孙婉玲 《肿瘤防治研究》 CAS 2024年第5期368-372,共5页
目的探讨B细胞非霍奇金淋巴瘤(B-NHL)IGH基因克隆性重排特点及临床应用价值。方法收集接受NGS检测,且存在IGH基因存在克隆性重排的55例B-NHL患者的人口学资料、临床资料及IGH基因NGS检测结果,分析IGH基因克隆性重排特点、IGHV基因取用频... 目的探讨B细胞非霍奇金淋巴瘤(B-NHL)IGH基因克隆性重排特点及临床应用价值。方法收集接受NGS检测,且存在IGH基因存在克隆性重排的55例B-NHL患者的人口学资料、临床资料及IGH基因NGS检测结果,分析IGH基因克隆性重排特点、IGHV基因取用频率,以及NGS检测IGH基因重排在临床中的应用价值。结果55例患者中,以单个优势克隆为主(85.45%,47/55),少数患者可检测到2个(12.73%,7/55)和3个优势克隆(1.82%,1/55);在IGHV基因取用偏好方面,IGHV3基因在B-NHL中取用频率最高,其次为IGHV4基因;在IGHV亚型中,IGHV3-23在慢性淋巴细胞白血病/小淋巴细胞淋巴瘤(CLL/SLL)中出现频率最高,IGHV4-34在原发中枢神经系统弥漫大B细胞淋巴瘤(PCNSL-DLBCL)及弥漫大B细胞淋巴瘤非特指型(DLBCL-NOS)中出现频率最高。结论不同病理类型的B-NHL患者IGH基因克隆性重排中IGHV基因片段取用频率存在偏好,使用NGS检测IGH重排可以识别亚克隆,鉴定克隆相关性,辅助疾病诊断。 展开更多
关键词 IGHV 非霍奇金淋巴瘤 二代测序 克隆性重排
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国产遗传分析仪测序模块优化设计研究
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作者 管桦 张建 +6 位作者 阮德林 张欣欣 张涛 杨丽萍 张宁杰 闫梁 贾二惠 《激光生物学报》 CAS 2024年第3期217-226,共10页
本文使用国产24道遗传分析仪搭配国产36 cm毛细管阵列,解决无胶筛分毛细管电泳技术为基础的遗传分析仪在测序中荧光信号校正、运行电压、迁移校正问题。以24道遗传分析仪原始光谱荧光信号为基础,建立光谱校正模型,获得基线噪声阈值。通... 本文使用国产24道遗传分析仪搭配国产36 cm毛细管阵列,解决无胶筛分毛细管电泳技术为基础的遗传分析仪在测序中荧光信号校正、运行电压、迁移校正问题。以24道遗传分析仪原始光谱荧光信号为基础,建立光谱校正模型,获得基线噪声阈值。通过运行电压与峰间距值绘制标准曲线,利用测序分析软件计算清晰片段长度,确定最佳运行电压和峰间距,进而计算迁移偏移值,建立碱基大小与迁移时间的线性模型,实现碱基的准确识别。研究表明,在合适的光谱校正和基线噪声阈值限制下,当运行电压设置为10 kV,峰间距为13.05帧时,分析仪的最长清晰片段检验能力最强,为561 bp。通过迁移修正值的补偿,建立碱基大小与迁移时间的线性模型,碱基G、A、T、C的R2(标准曲线)值分别从0.9927、0.9927、0.9945、0.9879提高到0.9996、0.9998、0.9996、0.9997,且修正后,各个荧光标记的碱基均能得到正确标记,无漏标和错标,清晰片段长度延长到621 bp。本研究可以指导国产遗传分析仪测序模块的优化和设计,使分析仪的DNA碱基识别功能更高效和准确。 展开更多
关键词 国产遗传分析仪 无胶筛分毛细管电泳 碱基测序 运行电压 迁移校正
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缺血性脑卒中患者血清差异基因的筛选及生物信息学研究及验证
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作者 王洋 汪露 李辉 《新疆医科大学学报》 CAS 2024年第6期817-823,共7页
目的研究缺血性脑卒中患者血清差异基因的筛选及生物信息学。方法以2023年3月-2024年3月在新疆医科大学第二附属医院神经内科确诊的80例缺血性脑卒中患者为病例组,选择同期80例健康体检者为对照组。分别挑选两组各10例受试者的外周血清... 目的研究缺血性脑卒中患者血清差异基因的筛选及生物信息学。方法以2023年3月-2024年3月在新疆医科大学第二附属医院神经内科确诊的80例缺血性脑卒中患者为病例组,选择同期80例健康体检者为对照组。分别挑选两组各10例受试者的外周血清采用芯片差异性基因鉴定法筛选缺血性脑卒中差异表达的长链非编码RNA(lncRNA),并采用KEGG通路富集和基因本体论(GO)分析鉴定差异表达基因发挥的生物学功能。挑选2个上调和2个下调的lncR-NAs,在两组患者外周血中采用实时荧光定量PCR(qRT-PCR)法检测表达量,采用受试者工作特征曲线(Receiver operating characteristic,ROC)计算差异性表达lncRNAs诊断缺血性脑卒中的曲线下面积(Area under the curve,AUC)。结果共检测到34个高表达和16个低表达的lncR-NAs。KEGG通道分析显示,差异表达的lncRNAs涉及肿瘤坏死因子(TNF)信号通路、类风湿性关节炎、细胞因子与细胞因子受体相互作用,病毒蛋白与细胞因子和细胞因子受体的相互作用、癌症的转录失调、沙门氏菌感染、白细胞介素(IL)-17信号通路、趋化因子信号通路。GO分析显示,差异表达的lncRNAs涉及白细胞黏附调控、细胞黏附调节、白细胞与其他细胞黏附、细胞趋化性、T细胞活化、骨髓细胞分化、止血和凝血。qRT-PCR检测显示,与对照组比较,病例组患者A1BG-AS1和BRWD1-AS2表达量升高,BVES-AS1和C10ORF71-AS1表达量降低,差异有统计学意义(P<0.05)。ROC分析显示,A1BG-AS1、BRWD1-AS2、BVES-AS1和C10ORF71-AS1表达量诊断缺血性脑卒中的AUC分别为0.803、0.856、0.897和0.798(P<0.001)。结论缺血性脑卒中患者外周血中A1BG-AS1、BRWD1-AS2、BVES-AS1和C10ORF71-AS1基因差异性表达,可以辅助缺血性脑卒中的疾病诊断。 展开更多
关键词 缺血性脑卒中 微阵列芯片 高通量测序 长链非编码RNA
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融合外部注意力机制的序列到点非侵入式负荷分解
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作者 李利娟 刘海 +2 位作者 刘红良 张青松 陈永东 《上海交通大学学报》 EI CAS CSCD 北大核心 2024年第6期846-854,共9页
非侵入式负荷分解可以深度挖掘用户电力消耗数据蕴含的信息价值,为电力设备故障监测、需求响应等决策分析提供重要参考.为有效解决非侵入式负荷分解算法训练时间成本与分解精度间的冲突,提出一种融合外部注意力机制的序列到点非侵入式... 非侵入式负荷分解可以深度挖掘用户电力消耗数据蕴含的信息价值,为电力设备故障监测、需求响应等决策分析提供重要参考.为有效解决非侵入式负荷分解算法训练时间成本与分解精度间的冲突,提出一种融合外部注意力机制的序列到点非侵入式负荷分解算法.首先,将总负荷功率消耗序列进行数据清理、标准化等预处理,以固定窗口长度构建训练输入数据,输入数据通过编码层自动提取设备特征;然后,设计外部注意力机制增强重要特征权值;最终,输入到解码层得到负荷分解结果.利用REDD与UK-DALE两种公开数据集进行模型仿真计算,在信号聚合误差、平均绝对误差、标准化分解误差指标、模型分解曲线、特征图和用户耗能等方面进行对比分析,本文模型克服了卷积层注意力分散的缺点,增强了对有效信息的提取与利用能力,在未增加训练时间成本的前提下具有更高的分解精度. 展开更多
关键词 非侵入式负荷分解 外部注意力机制 神经网络 序列到点
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884例性染色体异常胎儿产前诊断结果分析
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作者 杨微微 姚立英 +4 位作者 任晨春 王文靖 张海霞 李雯 李博 《检验医学》 CAS 2024年第2期149-154,共6页
目的 对884例无创产前筛查(NIPS)提示性染色体异常的羊水样本进行核型分析、荧光原位杂交技术(FISH)和拷贝数变异测序(CNV-seq)检测,探讨不同方法在产前诊断中的价值。方法 选取2015年1月—2022年12月天津市中心妇产科医院孕早期NIPS提... 目的 对884例无创产前筛查(NIPS)提示性染色体异常的羊水样本进行核型分析、荧光原位杂交技术(FISH)和拷贝数变异测序(CNV-seq)检测,探讨不同方法在产前诊断中的价值。方法 选取2015年1月—2022年12月天津市中心妇产科医院孕早期NIPS提示胎儿为性染色体异常的孕妇884例,于孕中期采集羊水样本,进行羊水细胞核型分析和FISH检测,对结果不一致或培养失败的样本进一步行CNV-seq检测。结果 884例孕妇中,有341例(38.6%)检出异常核型,11例(1.2%)羊水细胞培养失败。NIPS性染色体阳性预测值为39.2%(341/873)。341例核型分析异常样本中,最常见的核型异常类型是47,XXY(108例),其次为47,XXX(80例)、47,XYY(68例)、45,X(18例),共检出51例嵌合体。884例孕妇中,有862例FISH检测结果与核型分析或CNV-seq结果一致,FISH的阳性预测值为97.5%;24例与核型分析结果不一致,进一步行CNV-seq检测,有22例CNV-seq结果与核型分析结果一致,并能相互补充分析;2例不一致样本中,1例核型分析结果为46,~+mar,FISH和CNV-seq结果均为45,X;1例核型分析结果为嵌合Y染色体异染色质区缺失,FISH和CNV-seq结果均为嵌合体,结构未见异常。结论 NIPS提示性染色体异常时,建议首选FISH和核型分析联合检测,可快速、准确地诊断染色体异常。对于疑似染色体特殊结构异常,建议进行FISH、核型分析和CNV-seq联合检测,可明确遗传学病因。 展开更多
关键词 无创产前筛查 染色体核型分析 荧光原位杂交技术 拷贝数变异测序 性染色体异常 产前诊断
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贵州苗族非梗阻性无精男性3例的Y染色体微缺失及致病候选基因
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作者 张程 李鸿婧 谭宗建 《山西医科大学学报》 CAS 2024年第3期396-398,共3页
目的研究贵州苗族无精症男性的Y染色体微缺失和致病候选基因突变。方法本研究招募苗族非梗阻性无精症男性3人,使用目标区域捕获测序及全外显子测序,分析注释到相关基因区域,解析苗族无精症男性的Y染色体微缺失及致病候选位点。结果3例... 目的研究贵州苗族无精症男性的Y染色体微缺失和致病候选基因突变。方法本研究招募苗族非梗阻性无精症男性3人,使用目标区域捕获测序及全外显子测序,分析注释到相关基因区域,解析苗族无精症男性的Y染色体微缺失及致病候选位点。结果3例苗族非梗阻性无精症患者中未发现Y染色体微缺失位点。全外显子测序结果发现USP9Y、CFTR、ZMYND15、DNAH1的突变位点,可能是苗族非梗阻性无精症的候选致病突变。结论贵州苗族男性Y染色体微缺失阴性的非梗阻性无精症可能具有特异的基因致病突变位点,在男性不育研究及临床中应引起关注。 展开更多
关键词 非梗阻性无精症 原发不育 Y染色体微缺失 全外显子测序 致病突变
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