深圳市育龄女性FMR1基因CGG重复序列的多态性分析

Polymorphism Analysis of CGG Repeat Sequence of FMR1 Gene in Women of Childbearing Age in Shenzhen City

目的通过对深圳市育龄女性进行脆性X智力低下1(FMR1)基因筛查,了解本市育龄女性FMR1基因(CGG)重复序列分布特征。方法采集100名育龄女性的外周血,提取基因组DNA,应用三引物PCR及毛细管电泳技术检测全血样本中FMR1基因CGG重复序列,并对检测结果进行统计分析。结果在78名具有自然流产史(15名)、复发性流产史(42名)和其他不良生育史(21名)的育龄女性中,FMR1等位基因1及等位基因2 CGG重复序列分布情况均无差异(P>0.05)。100名育龄女性FMR1基因CGG重复数范围为21~44,最常见CGG重复数为30和29,未检出突变基因携带者。结论不同地区、种族女性FMR1前突变基因携带率存在一定差异,但同一种族在不同地区携带率无差异。

Objective To investigate the distribution of fragile X mental retardation 1(FMR1)gene(CGG)repetitive sequence in women of childbearing age in Shenzhen city by screening FMR1 gene.Methods Peripheral blood samples of 100 women of childbearing age were collected,and genomic DNA was extracted.The CGG repetitive sequences of FMR1 gene in whole blood samples were detected by three primer PCR and capillary electrophoresis,and then detected results were statistically analyzed.Results Among 78 women of childbearing age with a history of spontaneous abortion(n=15),recurrent abortion(n=42)and other adverse fertility(n=21),there were no differences in the distribution of CGG repetitive sequences of FMR1 allele 1 and allele 2(P>0.05).The variation range of CGG repeated numbers of FMR1 gene in 100 women of childbearing age was 21-44,and the most common CGG repeated numbers were 30 and 29.No mutation gene carriers were detected.Conclusion There are some differences in the carrying rate of FMR1 pre-mutation gene among women in different regions and races,but there is no difference in the carrying rate among women in same race in different regions.