运用三色FISH技术确定自然流产夫妇染色体微小区域倒位  

Triple FISH for Application in Identification of Chromosomal Short Inversions in Couples with Spontaneous Abortions

作　　者：何姝婧[1] 曾艳红[2] 宋新明[1] 师蕊婷[1] 陈争[1] 

机构地区：[1]中山大学中山医学院医学遗传教研室,广东广州510080 [2]中山大学附属第一医院生殖医学中心,广东广州510080

出　　处：《中山大学学报（医学科学版）》2014年第1期111-115,共5页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：国家自然科学基金(30971601);广东省自然科学基金(9151008901000089);广东省科技计划项目(2010B031600039)

摘　　要：【目的】对2例婚后妻子连续2次流产伴21号染色体结构改变病例进行多探针荧光原位杂交(FISH),探讨FISH技术在临床诊断微小区域染色体结构异常的应用价值。【方法】通过染色体常规G显带技术初步确定染色体结构异常类型及染色体断裂的区带位置,然后挑选位于21号染色体长臂位点特异性BAC克隆,缺口平移法将其标记为探针,与21号染色体长臂末端的商品化探针混合,进行三色FISH。【结果】FISH结果排除了涉及其它染色体结构异常的可能,确定这2例均为21号染色体长臂微小区段的臂内倒位,这是首次关于21号染色体臂内倒位导致自发流产病例的报道。【结论】21号染色体臂内倒位与自然流产相关;多色FISH技术在诊断和确定微小区域染色体结构异常中有非常重要的作用和应用价值。[Objective] To analyze chromosomal structural changes in two cases, whose wives had recurrent spontaneous abortions; to study the application of FISH in clinical diagnosis of chromosome microstructure abnormality. [ Methods ] Chromosome G- banding？ karyotype analysis was performed to initially identify the structural aberrations. The BAC clones, which are located in chromosome 21 q-arm, were labeled with nick translation kit. Triple FISH was conducted with commercial probes and BAC clone probes. [Results] FISH images excluded the possibility of interchromosomal exchanges between chromosomes 21 and other chromosomes, and identified that the two cases were short inversions in the q-arms of chromosomes 21. It was the first case report of chromosome 21 paracentric inversion leading to abortions. [Conclusions] Chromosome 21 paracentric inversion is related to spontaneous abortions. Multiple FISH technology is important and valuable in identification and diagnosis of chromosome microstructure abnormality.

关 键 词：三色FISH BAC克隆探针 自然流产 染色体倒位 

分 类 号：R394-3[医药卫生—医学遗传学]