微阵列比较基因组杂交检测和分析46,X0,+der(?)患儿的全基因组拷贝数变化

基础医学与临床 ›› 2010, Vol. 30 ›› Issue (2): 144-150.

微阵列比较基因组杂交检测和分析46,X0,+der(?)患儿的全基因组拷贝数变化

张艳亮戴勇涂植光李启运任景慧张丽王林纤

暨南大学第二临床医学院暨南大学第二临床医学院

收稿日期:2009-05-18 修回日期:2009-06-30 出版日期:2010-02-05 发布日期:2010-02-05
通讯作者: 戴勇

Detection and analysis of genomic copy number variations in a 46,X0,+der(?) fetus by array-based comparative genomic hybridization

Yan-liang ZHANG, Yong DAI, Zhi-guang TU, Qi-yun LI, Jing-hui REN, Li ZHANG, Lin-qian WANG

The Second Clinical Medical College, Jinan University The Second Clinical Medical College, Jinan University

Received:2009-05-18 Revised:2009-06-30 Online:2010-02-05 Published:2010-02-05
Contact: Yong DAI,

摘要/Abstract

摘要： 目的检测和分析一46,X0,+der(?)患儿的全基因组拷贝数变化（CNVs），确定患儿的核型，探讨微阵列比较基因组杂交（array-CGH）在临床细胞遗传诊断中运用的可行性和优越性。方法对患儿进行常规G显带染色体分析，应用array-CGH芯片进行全基因组高分辨率扫描和分析，RT-qPCR验证array-CGH的结果。结果 G显带染色体分析显示患儿的核型为46,X0,+der(?)。Array-CGH显示衍生染色体为Y染色体，且不存在CNVs；另外，共检测出了118个亚显微CNVs。RT-qPCR证明array-CGH的结果是准确的。结论与传统的细胞遗传分析方法相比，array-CGH具有高分辨率、高通量和高准确性等优点，为亚显微水平染色体畸变的检测提供了一种新型的强大的分析平台。

关键词: 微阵列比较基因组杂交, 拷贝数变化, 细胞遗传分析, 基因型-表型相关性

Abstract: Objective To understand genomic copy number variations (CNVs) and ascertain karyotype for a 46,X0,+der(?) fetus, and investigate possibility and superiority of array-based comparative genomic hybridization (array-CGH) in clinical cytogenetic diagnosis. Methods G-banded chromosome analysis was carried out. The whole genome of the fetus was scanned and analysed by array-CGH. The results of array-CGH were confirmed by RT-qPCR. Results G-banded chromosome analysis showed the fetal karyotype was 46,X0,+der(?). Array-CGH revealed the derivative chromosome was Y chromosome without CNVs. A total number of 118 submicroscopic CNVs were identified. Comparable results between array-CGH and RT-qPCR were obtained for 9 novel CNVs. Conclusion Comparing with conventional cytogenetic analysis, array-CGH is of high resolution, high-throughput and high accuracy, which provides a powerful plateform for accurate detection of submicroscopic chromosomal aberrations.

Key words: array-based comparative genomic hybridization, copy number alterations, cytogenetic analysis, genotype-phenotype correlation

张艳亮戴勇涂植光李启运任景慧张丽王林纤. 微阵列比较基因组杂交检测和分析46,X0,+der(?)患儿的全基因组拷贝数变化[J]. 基础医学与临床, 2010, 30(2): 144-150.

Yan-liang ZHANG; Yong DAI; Zhi-guang TU; Qi-yun LI; Jing-hui REN; Li ZHANG; Lin-qian WANG. Detection and analysis of genomic copy number variations in a 46,X0,+der(?) fetus by array-based comparative genomic hybridization[J]. Basic & Clinical Medicine, 2010, 30(2): 144-150.