乌鲁木齐市汉族育龄女性FMR1基因(CGG)n序列变异检测分析  

Analysis on the 98 cases of the expansion of CGG sequences with the fragile X mental retardationl(FMRI) gene in Urumqi Han Women of childbearing age

作　　者：刘帆[1] 杨楠[2] 黄新林[2] 冯桂萍[2] 邓田园 戚豫[3] 桂俊豪[2] 周瑾[3] 

机构地区：[1]石河子大学医学院,新疆石河子832000 [2]新疆军区总医院妇产科,新疆乌鲁木齐830000 [3]北京大学第一医院,北京100034

出　　处：《中国优生与遗传杂志》2017年第2期13-15,共3页Chinese Journal of Birth Health & Heredity

基　　金：自治区科技支疆项目计划(2016E02056)资助

摘　　要：目的通过对乌鲁木齐市98例汉族育龄女性脆性X智力低下1(FMR1)基因(CGG)n进行检测分析,为本地区脆性X综合征(FXS)的预警和产前筛查提供理论依据。方法提取基因组DNA、应用AmplideX^(TM) FMR1 PCR专利技术进行PCR扩增以及毛细管电泳技术对血液标本进行FMR1基因(CGG)n重复基因进行检测,并对数据进行统计分析。结果乌鲁木齐市汉族育龄女性的FMR1基因中最常见的CGG重复数为29(41.33%),其次为30(28.06%)。检出FMR1基因的突变灰色区域携带者1例,本市汉族育龄女性FMR1基因突变灰色区域携带率为1/98。结论新疆乌鲁木齐市汉族育龄女性FMR1基因突变携带率较之前中国其他地区及亚洲其他国家的研究结果偏高,但明显低于欧美地区突变携带率的报道。Objective：Testing analysis of 98 cases of the expansion of CGG sequences of the Fragile X Mental Retardation 1（FMR1）gene in Urumqi Han women of childbearing age,as the region of the fragile X syndrome（FXS）provides the theory basis for early warning and prenatal screening. Methods：Extracted the purpose gene from venous blood. Used AmplideX-（TM） FMR1 PCR proprietary technology,through PCR technology and capillary electrophoresis,detected FMR1 gene in the blood specimen. Get the clients FMR1 gene in CGG nucleotides repeat genotype,and analyzed the results. Results：the most common type of FMR1 gene CGG repeat number among Han nationality women of childbearing age in Urumqi Municipality is 29（41.33%）,followed by 30（28.06%）. Check out the FMR1 gene intermediation with 1 case. The intermediation rate which Han nationality women in the city carry FMR1 gene mutations is 1/98. Conclusion：The Xinjiang Urumqi Municipality Han women of child-bearing age FMR1 gene mutation carrier rate is higher than the foregoing research results come from the rest of China and other Asian countries,but significantly lower than the European and American regions carry mutations in the report.

关 键 词：FMR1基因 脆性X综合征 乌鲁木齐市汉族女性 AmplideX^TM FMR1 PCR 

分 类 号：R440[医药卫生—诊断学] R596[医药卫生—临床医学]