POTENTIAL PITFALLS IN USING DNA PROBES TO COUNSEL DUCHENNE AND BECKER MUSCULAR DYSTROPHY FAMILIES
作者机构：Neurology Department Hospital of the University of Pennsylvania Philadelphia 19104 U.S.A.
出 版 物：《中华医学杂志(英文版)》 (Chinese Medical Journal)
年 卷 期：1992年第105卷第6期
页 面：469-475页
核心收录：
基 金：This study was supported by grants from the Muscular Dystrophy Association the March of Dimes Birth Defects Foundation and the National Institute of Health(NS08075 and GM32592)
主 题：GENE DIAGNOSIS INHERITANCE MUTATIONS LOCUS
摘 要：Although the accuracy in prenatal diagnosis andcarrier detection with DNA probes in families withDuchenne and Becker s muscular dystrophies is veryhigh,various factors limit the accuracy of these probesin many *** report four potential pitfalls,ie,intragenic recombination,genetic heterogeneity,germline mosaicism,and an evolving genetic defect en-countered in a population of Duchenne and Beckerfamilies,and describe a strategy to incorporate thesefactors into genetic counseling.
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