广西地区正常人群SCA3/MJD基因多态性研究

罗　曼; 王　进; 李桂冰; 肖友生; 曹小丽; 甘　露

引用本文:	罗　曼，王　进，李桂冰，肖友生，曹小丽，甘　露.广西地区正常人群SCA3/MJD基因多态性研究[J].中国临床新医学,2012,5(3):210-211.

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广西地区正常人群SCA3/MJD基因多态性研究
罗　曼，王　进，李桂冰，肖友生，曹小丽，甘　露
530021　南宁，广西医科大学第一附属医院神经内科（罗　曼，王　进，肖友生，曹小丽，甘　露）；530021　南宁，广西壮族自治区人民医院内科ICU（李桂冰）

摘要:

［摘要］　目的　探讨广西地区汉族正常人群SCA3/MJD基因(CAG)n重复拷贝数的正常变异范围。方法　应用荧光PCR及毛细管电泳片段长度分析对广西75名正常人SCA3/MJD基因(CAG)n重复拷贝数进行分析。结果　广西地区SCA3/MJD基因(CAG)n在正常人群中的变异范围为13～34个拷贝，集中于13个拷贝，其等位基因频率为52.00%，杂合频率为69.33%，共17种等位基因。结论　SCA3/MJD基因(CAG)n重复序列在广西正常人群中呈现多态性，SCA3/MJD基因(CAG)n重复拷贝数正常变异范围存在地区差异。

关键词: SCA3/MJD基因 (CAG)n重复多态性

DOI：10.3969/j.issn.1674-3806.2012.03.08

分类号:R 744

基金项目:

Research on the normal range of SCA3/MJD gene CAG repeats in Han population in Guangxi region

LUO Man, WANG Jin, LI Gui-bing, et al.

Department of Neurology, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China

Abstract:

［Abstract］　Objective　To study the normal range of SCA3/MJD gene (CAG)n repeats in Han population in Guangxi region.Methods　The (CAG)n repeats polymorphism of SCA3/MJD gene was detected by fluorescence-polymerase chain reaction (PCR) and capillary electrophoresis (CE).Results　The normal ranges of (CAG)n of SCA3/MJD gene varied from 13 to 34 repeats, including a total of 17 alleles. The most common repeats number was 13 repeats, allele frequency was 52.00%, heterozygosity was 69.33%.Conclusion　SCA3/MJD gene (CAG)n repeats in the normal population in Guangxi showed polymorphism. There are regional differences in the normal range of variation.

Key words: SCA3/MJD gene (CAG)n repeat Polymorphism