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[杜兴氏肌营养不良症的产前DNA诊断]

[Prenatal DNA-diagnosis of Duchenne muscular dystrophy].

作者信息

Evgrafov O V, Poliakov A V, Zaĭtseva S P, Vinogradov S V, Bakharev V A, Mil'man F A, Lisova L P, Zaretskaia N V, Malygina N A, Badalian L O

出版信息

Mol Gen Mikrobiol Virusol. 1991 Feb(2):15-6.

PMID:1674355
Abstract

Two prenatal diagnoses were carried out by the technique of intragenic polymorphous marker detecting heterozygosity in pregnant women in the families with cases of Duchenne muscular dystrophy. In both cases the DNA fragment from pERT87-15 region was amplified. This fragment includes a polymorphous site in BamHI region of recognition. DNA analyses of the families members have been made and the genetical risk has been calculated by the Bayes method. The prognoses for both fetuses are good.

摘要

采用基因内多态性标记检测杜氏肌营养不良症家庭中孕妇杂合性的技术进行了两次产前诊断。在这两个病例中,均扩增了来自pERT87 - 15区域的DNA片段。该片段在识别的BamHI区域包含一个多态性位点。对家庭成员进行了DNA分析,并通过贝叶斯方法计算了遗传风险。两个胎儿的预后良好。

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