河南汉族一脊髓小脑性共济失调家系基因突变检测  

Genetic testing of spinocerebellar ataxia genes of Han population in Henan province

作　　者：王东浩[1] 郭利伟[2] 徐艳芹[1] 杨保胜[3] 黄艳梅[2] 

机构地区：[1]新乡医学院,河南新乡453003 [2]新乡医学院法医物证学教研室,河南新乡453003 [3]新乡医学院基础医学院,河南新乡453003

出　　处：《新乡医学院学报》2016年第10期868-871,共4页Journal of Xinxiang Medical University

基　　金：国家级大学生创新创业训练计划项目(编号:201410472027);河南省教育科学“十二五”规划立项重点课题(编号:2013-JKGHB-0035)

摘　　要：目的检测和分析河南汉族一脊髓小脑性共济失调（SCA）家系亚型分型。方法采用聚合酶链式反应（PCR）技术和DNA直接测序法分析该家系患病者SCA1、SCA2、SCA3、SCA6、SCA7、SCA12、SCA17共7种常见SCA亚型基因序列,并与家系中其他正常个体及50例健康个体基因序列进行比较分析。结果检测到该家系4例患者及家系中2例健康成员SCA3基因的1个等位基因三核苷酸序列CAG异常重复扩增,异常重复次数在71-81次。其余6种亚型基因检测无异常。结论该家系SCA患病表现为中国人常见的SCA3亚型,家系中2例健康成员可能为症状前患者。Objective To detect and analyze the subtypes of spinocerebellar ataxia（ SCA） pedigree in Henan Han population. Methods The gene sequence of seven common genes of SCA including SCA1,SCA2,SCA3,SCA6,SCA7,SCA12 and SCA17 of patients were analyzed by polymerase chain reaction and DNA direct sequencing. Then the gene sequences of patients were compared with the other healthy individuals in this family and 50 healthy individuals. Results The anomal repeat amplification protcol of trinucleotide sequence CAG in one allele of SCA3 gene in four patients and two healthy individuals in this family were found; and the times of abnormal repeat was 71- 81. The other 6 subtypes of SCA genes in this family members were no abnormal. Conclusion The prevalence of SCA pedigree may be showed with SCA3 subtypes which known in Chinese population. Two healthy members of this family may be presymptomatic patients.

关 键 词：脊髓小脑性共济失调 基因突变 三核苷酸重复 基因诊断 

分 类 号：R394[医药卫生—医学遗传学] R744.7[医药卫生—基础医学]