| 舞蹈病一家系临床分析及基因诊断 |
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| 引用本文： | 石之驎,王沙燕,张阮章,戴勇. 舞蹈病一家系临床分析及基因诊断[J]. 中国生育健康杂志, 2006, 17(2): 99-100 |
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| 作者姓名： | 石之驎 王沙燕 张阮章 戴勇 |
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| 作者单位： | 518200,广东,深圳市人民医院(暨南大学第二临床医学院)临床医学研究中心 |
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| 摘 要： | 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。
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| 关 键 词： | Huntington舞蹈病 基因 多聚酶链反应 |
| 收稿时间： | 2005-12-20 |
| 修稿时间： | 2005-12-20 |
Clinical analysis and gene diagnoses of four patients in one family of Huntington disease |
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| SHI Zhili,WANG Shayan, ZHANG Ruanzhang,et al.. Clinical analysis and gene diagnoses of four patients in one family of Huntington disease[J]. Chinese JOurnal of Reproductive Health, 2006, 17(2): 99-100 |
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| Authors: | SHI Zhili WANG Shayan ZHANG Ruanzhang et al. |
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| Affiliation: | SHI Zhili,WANG Shayan, ZHANG Ruanzhang, et al. |
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| Abstract: | Objective To investigate possible molecular mechanism of Huntington disease. Methods PCR amplification and gelose electrophoresis technique were used to test CAG segment for three patients, eight members at high risk and 4 healthy spouses. Results Three patients were found to amplify two specific sections while eight members at high risk and four healthy spouses were found to amplify one specific section in the somatic chromosome dominantly inherited family. Conclusion Huntington disease is a somatic chromosome dominantly inherited disease. There are abnormal amplifications in CAG repeats segment of patients with Huntington disease. |
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| Keywords: | Huntington disease Gene Polymerase chain reaction |
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