| Huntington舞蹈症的IT15基因诊断 |
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| 引用本文： | 王波,唐艳平,陈燕,王慧,杨真荣,田虹. Huntington舞蹈症的IT15基因诊断[J]. 中国优生与遗传杂志, 2005, 13(7): 25-27 |
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| 作者姓名： | 王波 唐艳平 陈燕 王慧 杨真荣 田虹 |
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| 作者单位： | 华中科技大学同济医学院,武汉,430030 |
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| 摘 要： | 为了对Huntington舞蹈症进行早期准确的基因诊断,作者应用聚合酶链反应直接检测IT15基因CAG三核苷酸重复序列,对武汉某Huntington舞蹈症(HD)家系两代11名家庭成员进行了基因诊断.PCR产物的取丙烯酰胺凝胶电脉结果显示5例HD高风险者有4例携带异常HD基因.
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| 关 键 词： | Huntington舞蹈症 动态突变 基因诊断 CAG三核苷酸重复 |
| 文章编号： | 1006-9534(2005)07-0025-03 |
| 修稿时间： | 2004-12-26 |
The IT15 gene diagnosis of Huntington disease |
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| WANG Bo,TANG Yan-ping,CHEN Yan,WANG Hui,YANG Zhen-rong,TIAN Hong. The IT15 gene diagnosis of Huntington disease[J]. Chinese Journal of Birth Health & Heredity, 2005, 13(7): 25-27 |
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| Authors: | WANG Bo TANG Yan-ping CHEN Yan WANG Hui YANG Zhen-rong TIAN Hong |
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| Abstract: | Using the technology of polymerase chain reaction and polyacrylamide gel electrophoresis,we examine the number of CAG Triplets in IT15 gene directly,then we can give an early and exact gene diagnosis for Huntington disease.We examined 11 persons who come from a HD family. The result shows that 4 of total 5 high risk members carry the HD gene. |
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| Keywords: | Huntington disease Dynamic mutation Gene diagnosis CAG Triplets |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ |
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