| 应用STR多态性对肝豆状核变性家系进行产前基因诊断的研究 |
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| 引用本文： | 王慧玲,孔祥东,史惠蓉.应用STR多态性对肝豆状核变性家系进行产前基因诊断的研究[J].中国航天工业医药,2010(1):17-19. |
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| 作者姓名： | 王慧玲 孔祥东 史惠蓉 |
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| 作者单位： | [1]河南省新乡医学院第一附属医院妇产科,453100 [2]郑州大学第一附属医院妇产科,453100 |
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| 摘 要： | 目的探讨运用多个STR多态性位点单体型分析对肝豆状核变性携带者进行筛查及产前诊断的方法。方法对6个肝豆状核变性家系进行D13S296、D13S301和D13S316三个位点连锁分析。结果在6个WD家系中共检出患儿2例，携带者3例，正常个体1例。结果均经出生后或引产后脐带血验证，与产前诊断完全相符。结论联合应用多个遗传多态性位点进行连锁分析，方法简便、灵活、可靠.
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| 关 键 词： | 肝豆状核变性 多态性 微卫星DNA |
Prenatal diagnosis of wilson＇s families by using STR polymorphism linkage analysis |
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| Authors: | Wang Huiling Kong Xiangdong Shi Huirong |
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| Institution: | .( The First Hospital Affiliated of Xinxiang Medical College, Xinxiang 453100) |
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| Abstract: | Objective To explore the method of carrier detection and prenatal diagnosis in wilson＇s family by using the polymorphism of short tandem repeat. Methods STR Linkage analysis was performed by using DI3S296,D13S301 and D13S316 in 6 wilson＇s families. Results Among these six fetals,two of them were diagnosed as patients, three of them were diagnosed as carrier, one fetal was normal. Conclusion It is a simple, accurate and feasible method to carry, prenatal diagnosis by the linkage analysis of several polymorphic markers. |
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| Keywords: | Wilson＇s disease Polymorphism Microsatellite DNA |
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