拷贝数变异

结论：1、构建了生长发育迟缓智力障碍全基因组拷贝数变异（CNV）数据库。

Established the Genomic Copy Number Variation Database of Growth and mental retardation .

通过拷贝数变异分析为猫叫综合征及PierreRobin序列征提供了可能相关区域。

Through the copy number variation analysis , regions possible related to Cri-du-chat Syndrome and Pierre Robin Sequence were identified . 2 .

病例3和病例5其基因组DNA分别合并有重复和缺失的复杂DNA拷贝数变异。

Case 3 and case 5 : There are the cases of complex genomic duplications and deletions .

基因拷贝数变异（CNV）是近来新发现的又一种染色体结构变异。

Copy number variant ( CNV ) is a novel structural variation in human chromosomes .

人类基因组的大规模差异，主要集中在拷贝数变异（CNVs现象）&从一千bp到数百万bp范围内的缺失、插入、重复和复杂多位点的遗传变异。

The major focus is on copy-number variants ( CNVs ) - genetic variants involving the insertion or deletion of large chunks of DNA , sometimes spanning over a million bases .

很明显，“就像其他研究透彻的基因组拷贝数变异一样”，β-防卫素拷贝数变化（CNV）也以孟德尔法则进行遗传。

" Apparently the beta-defensin CNV is inherited in a Mendelian manner ," as seems to be the case with other well-studied copy number variations around the genome .

研究人员在今天出版的《美国人类遗传学杂志》上报道：所有的CGHT患者都存在拷贝数变异现象，在相同的四个基因里都存在DNA缺失。

All of the CGHT sufferers had a copy number variation in which DNA was deleted across the same four genes , the authors report today in the American Journal of Human Genetics .

本文发展了几种检测小分子-蛋白质相互作用以及拷贝数变异的核酸扩增检测方法：（1）结合T7聚合酶与一个小分子标记的DNA双链，发展了一种RNA转录器件。

In this paper , we have developed several detection methods for small molecules-protein interaction and copy number variations based on nucleic acid amplification methods as follows : ( 1 ) We developed a RNA transcription nanomachine by assembling T7 RNA polymerase on a small molecule-labeled DNA heteroduplex .

目的：1、建立生长发育迟缓智力障碍全基因组拷贝数变异（CNV）数据库2、分析拷贝数变异序列特征，对其形成机制进行初步研究。

Objective : 1 . To establish a Genomic Copy Number Variation Database of Growth and mental retardation . 2 . To analyze the sequence features of Copy Number Variation in order to study their formation mechanism . Methods : 1 .

拷贝数变异：基因组多样性的新形式

Copy-number variation : a new pattern of structural diversity in genome

中国人群肥胖与全基因组拷贝数变异关联研究

Genome-wide Copy Number Variation Study Associated with Obesity in Chinese Population

代谢型谷氨酸受体7基因的拷贝数变异与精神分裂症的相关性

Association between Copy Number Variants within Metabotropic Glutamate Receptors 7 Gene and Schizophrenia

拷贝数变异，包括扩增、缺失等，是染色体结构改变的重要组成部分。

Copy number variations , mainly including deletions and amplifications , are main parts of chromosomal changes .

其二，我们提出了近似估计拷贝数变异突变率的统计新方法。

We proposed a novel statistical method to approximately estimate the mutation rate of copy number variants ( CNVs ) .

很多基因位点都有拷贝数变异现象，而且很多可能与疾病易感有关。

A large number of gene loci show variations in copy number , and many may be associated with disease susceptibility .

拷贝数变异和基因表达的整合分析有助于理解化疗耐药性的潜在机制。

The combination of copy number variation and gene expression signatures help to understanding of potential mechanisms involved in drug resistance .

微阵列比较基因组杂交具有高分辨率、高通量和高准确性等优点，适用于亚显微基因组拷贝数变异的检测。

Due to the high-resolution , high-throughput and high-accuracy , array-CGH is considered to be a powerful tool for submicroscopic CNVs detection .

生物多样性来自于基因的重组、变、筛选。拷贝数变异：基因组多样性的新形式

Biological variation resulting from recombination , mutation , and selection . Copy-number variation : a new pattern of structural diversity in genome

因此，建立小分子-蛋白质相互作用及拷贝数变异快速、简便的分析方法具有重要的生物学意义。

Hence , constructing simple and rapid methods for the study of small molecules-protein interaction and copy number variations is significant in biological fields .

为研究拷贝数变异可能带来表观遗传学改变，需要选择适当方法进行断点定位分析。

In order to analyze possible epigenetic alterations caused by copy number variations , it is necessary to modify useful methods for breakpoint mapping .

许多研究结果表明，拷贝数变异可导致不同程度的基因表达差异，与正常表型的构成及疾病的发生发展具有一定的联系。

Many scientific researches show that CNVs can result in different levels of gene expression and are connected with the normal phenotypic variation and human diseases .

值得一提的是，有132（3.0%）个拷贝数变异的突变率可达10-3/代水平，被认为是突变热点。

Notably , the mutation rates of 132 ( 3.0 % ) CNVs are at the order of 10-3 per generation , therefore , identified as hotspots .

小分子-蛋白质的相互作用、拷贝数变异与人类生产生活密切相关，因而一直是重要的分析研究对象。

Small molecular-protien interaction and copy number variations ( CNVs ) are always important analytes as they are closely concerned with human beings ' work and livelihood .

然后建一个基因调控网络进一步查明负责化疗耐药组和化疗敏感组之间的差异表达基因的拷贝数变异的基因。

A gene regulation network was then built to further identify genes responsible for differential gene expression and copy number variation between the chemotherapy resistant group and the chemotherapy sensitive group .

有些拷贝数变异是很常见的，但还有一些则在人类中极少发生或是发生的频率较低。

Known as copy number variants ( CNV ), the genetic abnormalities are alterations within the chromosome which means a cell has an excess or an absence of a slice of DNA .

芸薹属作物油酸脱饱和酶基因（FAD2）拷贝数和序列变异分析

Sequence and Copy Number Variation of Oleate Desaturase Gene ( FAD2 ) in Brassica Species