生殖异常姐妹的基因组拷贝数变异研究  

Copy Number Variation in Two Sisters with Reproductive Abnormalities

作　　者：刘沙沙[1] 李克秋[1] 马君静[2] 赵玉霞[1] 李光[1] 

机构地区：[1]天津医科大学生物学教研室,300070 [2]天津市静海县计划生育服务站

出　　处：《天津医药》2012年第4期305-307,共3页Tianjin Medical Journal

基　　金：国家自然科学基金资助项目(项目编号:21177091)

摘　　要：目的:通过对出现生殖异常姐妹的基因组拷贝数变异情况的研究,探讨基因组拷贝数变异与苯对生殖健康的影响。方法:选取1个家系,包括从事苯作业2年后,连续生育两胎畸形儿的姐姐和出现不孕妹妹,及她们育有一女的弟弟和姐妹从事苯作业前生育的儿子。采集外周血,进行核型分析、微核试验和比较基因组杂交芯片研究,并用荧光定量PCR技术分析姐妹芯片结果中出现的共同缺失区域中的人类妊娠特异性糖蛋白(PSG)家族的4个典型基因。结果:5例染色体G显带核型均未发现异常。姐妹的微核率高于另外3例,且高于正常范围。基因芯片的结果显示,姐妹在19q13.31区域存在1个共同的缺失区域。PCR结果与芯片结果相一致。结论:单倍体PSG基因在正常妊娠中更易受到外界环境因素的影响,苯作为环境污染物,严重影响人类健康。Objective： To investigate the influence of copy number variation and environmental pollutant-benzene on the reproductive abnormalities in two sisters with reproductive abnormalities. Methods： The select family was included two sisters, one with two deformed children after two years of exposure to benzene and a son before her exposure to benzene, and her infertile younger sister. The family also consisted of a younger brother with a daughter. The peripheral blood samples were collected from the family members for karyotyping, cytokinesis-block micronucleus and array comparative genomic hybridiza- tion. The four typical genes of pregnancy-specific glycoprotein （PSG） in the common lost region found in chip result of the two sisters were analyzed by real-time polymerase chain reaction （RT-PCR）. Results： There were no chromosomal abnormalities in G-bands of the five people. The micronuclear rates were higher in the two sisters than those of the other three subjects. Resuits showed a common region of 19q13.31 loss in the two sisters. RTPCR result was consistent with the microarray result. Conclusion： PSGs, more vulnerable to environmental interference, play a role in normal pregnancy. Benzene as an environmental pollutant seriously affects human health.

关 键 词：苯 妊娠结局 妊娠蛋白质类 微核试验 序列分析 基因组 

分 类 号：R739.63[医药卫生—肿瘤]