[1]王东浩,郭利伟,徐艳芹,等.河南汉族一脊髓小脑性共济失调家系基因突变检测[J].新乡医学院学报,2016,33(10):868-871.[doi:10.7683/xxyxyxb.2016.10.008]
　WANG Dong-hao,GUO Li-wei,XU Yan-qin,et al.Genetic testing of spinocerebellar ataxia genes of Han population in Henan province[J].Journal of Xinxiang Medical University,2016,33(10):868-871.[doi:10.7683/xxyxyxb.2016.10.008]
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河南汉族一脊髓小脑性共济失调家系基因突变检测
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《新乡医学院学报》[ISSN:1004-7239/CN:41-1186/R]

卷:
33
期数:
2016年10
页码:
868-871
栏目:
临床研究
出版日期:
2016-10-05

文章信息/Info

Title:
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3; 杨保胜4; 黄艳梅2
(1.新乡医学院2012级本科临床医学专业，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2013级本科法医学专业，河南　新乡　453003；4.新乡医学院基础医学院，河南　新乡　453003）
Author(s):
WANG Dong-hao1; GUO Li-wei2; XU Yan-qin3; YANG Bao-sheng4; HUANG Yan-mei2
(1.Grade 2012 of Clinical Medicine,Xinxiang Medical University,Xinxiang 453003,Henan Province,China;2.Department of Forensic Molecular Genetics,Xinxiang Medical University,Xinxiang 453003,Henan Province,China;3.Grade 2013 of Forensic Medince,Xinxiang Medical University,Xinxiang 453003,Henan Province,China;4.Department of Basic Medical Sciences,Xinxiang Medical University,Xinxiang 453003,Henan Province,China）
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
Keywords:
spinocerebellar ataxia; gene mutation; trinucleotide repeat; genetic diagnosis
分类号:
R394；R744.7
DOI:
10.7683/xxyxyxb.2016.10.008
文献标志码:
A
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。
Abstract:
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.

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更新日期/Last Update: 2016-10-05