微阵列比较基因组杂交技术诊断9q部分三体患者一例  

The microarray comparative genomic hybridization technology in the diagnosis of trisomal patients in the 9q section a case

作　　者：胡方方[1] 郝林[1] 严晓南[1] 顾娟[1] 刘小燕[1] 杨亚茹[1] 李海波[2] 李红[2] 曹义娟[1] HU Fang-fang;HAO Lin;YAN Xiao-nan(reproductive medicine center,Central Hospital of Xuzhou,Jiangsu,221009,Institute of reproductive medicine,Southeast University（Xuzhou;reproductive and Genetic Center,Suzhou Municipal Hospital,Jiangsu)

机构地区：[1]江苏省徐州市中心医院生殖医学中心东南大学(徐州)生殖医学研究所,221009 [2]江苏省苏州市立医院生殖与遗传中心

出　　处：《中国优生与遗传杂志》2018年第8期26-28,36,F0003,共5页Chinese Journal of Birth Health & Heredity

基　　金：江苏省妇幼健康科研项目(F201561);江苏省自然科学基金项目(BK20161169);徐州市中心医院硕士创新团队课题(XZS201671);徐州市卫生创新(科技攻关)团队(XZCX201603)

摘　　要：目的对1例患者衍生的9号染色体进行基因组拷贝数分析,明确其遗传物质的来源并推测其发生机制。探讨微阵列比较基因组杂交技术(array-based comparative genomic hybridization,array-CGH)在临床分子遗传学诊断中的应用及其优越性。方法对患者外周血进行常规G显带分析,进一步应用array-CGH对患者进行全基因组扫描检测,应用Real-time Quantitative PCR对异常拷贝数区域进行验证检测,确定其衍生染色体片段的来源。结果患者外周血染色体核型分析提示为46,XX,der(9)(p?)。array-CGH分析提示患者9q22和9q34之间插入了16p13.3约3.68M的重复片段、14q32.3约3.37M的重复片段以及9q33.3约25Kb的重复片段。RT-q PCR证明array-CGH的结果是正确的。结论患者衍生的9号染色体来源于16p、14q及9q部分片段的重复,是导致患者多次流产的主要原因。array-CGH应用到临床具有高分辨、高通量和高准确性的优点,适用于全基因组拷贝数变异分析。Objective：To 1 patients derived genome copy number analysis of chromosome 9,the source of genetic material in a clear and its pathogenesis. Micro array comparative genomic hybridization technology（array-based comparative genomic hybridization,array CGH）in the diagnosis of clinical molecular genetics and its superiority. Methods：Of peripheral blood in patients with normal G banding analysis,further application of array CGH-to genome-wide scans of patients,application of Real-time policy PCR for detecting abnormal copy number area for validation. Identifies the source of its derivative chromosome fragment. Results：In patients with peripheral blood chromosome karyotype analysis of 46,XX,der（9）（p）？. Array CGH analysis between tip 9 q22 patients and 9 q34 insert 16 p13. 3 is about 3.68 M of repeat fragment,14 q32.3 is about 3.37 M of repeat fragment and 9 q33.3 about 25 kb repeat fragment. RT-q PCR prove array-the result of the CGH is correct. Conclusion：Derived from patients with chromosome 9 from 16 segments of 9 p,14 q and q part of repetition,is the main reason of leading to multiple miscarriages. Array-CGH is applied to the clinical with high resolution,high flux,and the advantages of high accuracy,used throughout the genome copy number variation analysis.

关 键 词：9q部分三体 微阵列比较基因组杂交 拷贝数变异 复发性流产 

分 类 号：R394.3[医药卫生—医学遗传学]