正常人群中FMR-1等位基因的调查及分析  

Investigation and analysis of FMR-1 alleles in the normal population

作　　者：巫向前[1] 江忠仪 殷常红 倪语星[1] 王丹艺 潘妙娟[2] 曹政 彭智培[2] 

机构地区：[1]上海第二医科大学医学检验系,200025 [2]香港中文大学化学病理学系

出　　处：《上海医学》2000年第2期88-90,共3页Shanghai Medical Journal

摘　　要：目的　探讨ＦＭＲ１ 等位基因５′不翻译区ＣＧＧ重复序列数检测在筛选中国人群中脆性Ｘ 综合征患者和携带者的作用，以提高脆性Ｘ 综合征的检出率。方法　采用聚合酶链反应技术、３２Ｐ标记（ＣＧＧ）５ 探针杂交技术检测分析ＣＧＧ 重复序列。研究了２７８ 条正常Ｘ 染色体，其分别来自中国的香港、上海、长沙及大连地区。结果　检测发现５０ 多个ＣＧＧ 重复序列的５ 个等位基因，其中４ 个为杂合子女性。结论　ＦＭＲ１ 等位基因在汉族人群中没有区域差异，最常见的重复位点在ＣＧＧ 的２９ ，其次重复位点是３６。这些数据资料为筛选中国人群中脆性Ｘ 综合征的患者和携带者提供了依据。Objective To study the role and the number of trinucleotide CGG repeats at the 5' untranslated region of the FMR 1 gene in screening patients and carriers of the fragile X syndrome of the Chinese papulation. Methods CGG repeats were analyzed by polymerase chain reaction (PCR) and by hybridization with a 32 P labeled (CGG) 5 probe. We studied 278 normal X chromosomes from unrelated Chinese subjects in different parts of China as Hongkong, Shanghai, Changsha and Dalian. Results Five alleles of more than 50 CGG repeats were detected, with four of them being in heterozygous females. There was no difference in the repeat pattern in subjects from the four Chinese cities, suggesting no geographical differences. Conclusion Our data provides a foundation for screening affected individuals and carriers of the fragile X syndrome in Chinese population. (Shanghai Med J, 2000,23∶88 90)

关 键 词：FMR-1等位基因 聚合酶链反应 脆性X综合征 

分 类 号：R442.8[医药卫生—诊断学]