壮族人群脆性X综合征中不稳定遗传序列的研究  

Study of unsteady repeat of heredity in Fragile X Syndrome amony minority nationality

作　　者：马云[1] 何淑雅[1] 李斌元[1] 刘四春[1] 王桂良[1] 闵凌峰[1] 

机构地区：[1]南华大学生物化学与分子生物学教研室,湖南衡阳421001

出　　处：《中国现代医学杂志》2005年第3期377-378,382,共3页China Journal of Modern Medicine

基　　金：本课题为国家自然科学基金(30370795);湖南省自然科学基金(01JJY1002)资助项目

摘　　要：目的研究湖南省壮族人群FraX中不稳定DNA序列的多态性,建立一种快速筛查FraX中FMR-1动态突变的方法,为提高遗传咨询和诊断水平奠定基础。方法采用经典的PCR-Southernblot法对156例X染色体FRAXA位点(CGG)n重复序列拷贝数进行测定并与PCR-序列分析胶银染法进行比较。结果(CGG)n重复序列范围为6～57,高峰为29;发现一男性携带者,CGG重复数为57;PCR-序列分析银染法结果与PCR-Southernblot法结果完全一致,从PCR扩增到产物检测只需4,5h即可完成。结论壮族人群(CGG)n频率分布高峰为29,其次为27,30;PCR-序列分析胶银染法快速、直接、简便、实用,适合脆性X综合征的大规模群体筛查。To study the frequency of the unsteady DNA sequence among minority nationality and establish the simple and rapid methods for screening and diagnosing fragile X syndrome, which layed a foundation for the consultation for heredity and diagnosis. We used classical PCR-Southern blot to detect the CGG short tandern repeat in FMR-1 gene come from 156 minority people and compare with PCR-Sequece gel silver staining. In minority people, the mean number of CGG repeat was (CGG)29, the normal range was (CGG)6-(CGG)57, a NTM was found, his CGG repeat was (CGG)57. The data showed that the results of PCR-Sequence gel silver staining was the same as those of PCR-Southern blot. The whole processes from PCR amplication to its products identification could be finished in 4～5 hours. [Conclusion] In normal minority people, the mean number of CGG repeat is (CGG) 29, secondly, it's (CGG)27, (CGG)30;PCR-Sequence gel silver staining is rapid, direct, simple, economic and suits to the colony screening fragile X syndrome on a large scale.

关 键 词：脆性X综合征 FMR-1 三核苷酸重复 基因诊断 

分 类 号：R446.6[医药卫生—诊断学]