广西地区正常人群SCA3/MJD基因多态性研究  

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

作　　者：罗曼[1] 王进[1] 李桂冰[2] 肖友生[1] 曹小丽[1] 甘露[1] 

机构地区：[1]广西医科大学第一附属医院神经内科,南宁530021 [2]广西壮族自治区人民医院内科ICU,南宁530021

出　　处：《中国临床新医学》2012年第3期210-211,共2页CHINESE JOURNAL OF NEW CLINICAL MEDICINE

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。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-pol- ymerase 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.

关 键 词：SCA3/MJD基因 (CAG)n重复 多态性 

分 类 号：R744[医药卫生—神经病学与精神病学]