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微阵列比较基因组杂交检测和分析一例46,X0,+der(?)胎儿的全基因组拷贝数变化

Detection and analysis of genomic copy number variations in a 46,X0,+der(?) fetus by array-based comparative genomic hybridization
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摘要 目的检测和分析一例46,X0,+der(?)胎儿的全基因组拷贝数变化(CNVs),确定胎儿的核型,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。方法对胎儿进行常规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胎儿的核型为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。 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 that the fetal karyotype was 46 ,X0, ＋ der（？）. Array-CGH revealed the derivative chromosome as 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 cytogenetie analysis, array-CGH is of high resolution, high-throughput and high accuracy, which provides a technical platform for accurate detection of submicroscopic chromosomal aberrations.
作者 张艳亮 戴勇 涂植光 李启运 任景慧 张丽 王林纤
机构地区 暨南大学第二临床医学院(深圳市人民医院)临床医学研究中心 重庆医科大学教育部临床检验诊断学重点实验室
出处 《基础医学与临床》 CSCD 北大核心 2010年第2期144-150,共7页 Basic and Clinical Medicine
基金 深圳市科技计划重点项目(200901002)
关键词 微阵列比较基因组杂交 G显带染色体分析 拷贝数变化 细胞遗传分析 array-based comparative genomic hybridization G-banded chromosome analysis copy number alterations cytogenetic analysis
分类号 R450 [医药卫生—治疗学] R714.5 [医药卫生—妇产科学]
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参考文献11

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基础医学与临床
2010年 第2期

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