Clinical analysis and gene diagnoses of four patients in one family of Huntington disease
Author(s): SHI Zhizuo, WANG Shayan, ZHANG Ruanzhang, DAI Yong
Pages: 99-100
Year: 2006 Issue: 2
Journal: CHINESE JOURNAL OF REPRODUCTIVE HEALTH
Keyword: Huntington舞蹈病; 基因; 多聚酶链反应;
Abstract: 目的从分子水平探讨Huntington舞蹈病(HD)的致病突变,为该家系的基因诊断和遗传咨询提供科学依据.方法对该病进行家系调查,应用巢式PCR及琼脂糖凝胶电泳技术检测患者、HD症前高风险成员、正常人(CAG)n片段的长度,进行基因诊断.结果该家系符合常染色体显性遗传病特征,患者DNA电泳显示2条扩增区带,正常人显示1条扩增区带.结论舞蹈病为常染色体性遗传病,患者相关基因分端(CAG)n重复序列存在异常扩增.
Pages: 99-100
Year: 2006 Issue: 2
Journal: CHINESE JOURNAL OF REPRODUCTIVE HEALTH
Keyword: Huntington舞蹈病; 基因; 多聚酶链反应;
Abstract: 目的从分子水平探讨Huntington舞蹈病(HD)的致病突变,为该家系的基因诊断和遗传咨询提供科学依据.方法对该病进行家系调查,应用巢式PCR及琼脂糖凝胶电泳技术检测患者、HD症前高风险成员、正常人(CAG)n片段的长度,进行基因诊断.结果该家系符合常染色体显性遗传病特征,患者DNA电泳显示2条扩增区带,正常人显示1条扩增区带.结论舞蹈病为常染色体性遗传病,患者相关基因分端(CAG)n重复序列存在异常扩增.
Citations
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