基于DNA分析的杜氏肌营养不良症的携带者检测与产前诊断
[Carrier detection and prenatal diagnosis of Duchenne's muscular dystrophy based on DNA analysis].
作者信息
Evgrafov O V, Badalian L O, Poliakov A V, Zaĭtseva S P, Malygina N A, Vinogradov S V, Bakharev V A, Mil'man F A, Lisova L P, Zaretskaia N V
出版信息
Zh Nevropatol Psikhiatr Im S S Korsakova. 1990;90(8):29-33.
Seven families with histories of Duchenne's muscular dystrophy underwent DNA diagnosis. The daughters of those consulted were examined for the carriage in 4 families. Their carriage was rejected or confirmed. Prenatal diagnosis was made in 2 families. In another family an abortion preceded obtaining molecular-genetic evidence. Probes 754, p20, XJI.I and primers for amplification of the site pERI87-15 containing a polymorphic locus were employed. The genetic risk was assessed using the computer program GenRisk adjusted for family history and DNA test allowances.
对七个有杜氏肌营养不良症家族病史的家庭进行了DNA诊断。对其中四个接受咨询家庭的女儿进行了携带者检测，她们是否为携带者得到了排除或确认。对两个家庭进行了产前诊断。在另一个家庭中，在获得分子遗传学证据之前就进行了人工流产。使用了探针754、p20、XJI.I以及用于扩增包含多态性位点的pERI87 - 15位点的引物。使用根据家族病史和DNA检测容差进行调整的计算机程序GenRisk评估遗传风险。
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