一种基于登记的杜氏肌营养不良症基因追踪系统。
A register based system for gene tracking in Duchenne muscular dystrophy.
作者信息
Read A P, Kerzin-Storrar L, Mountford R C, Elles R G, Harris R
出版信息
J Med Genet. 1986 Dec;23(6):581-6. doi: 10.1136/jmg.23.6.581.
Abstract
A total of 102 families with Duchenne muscular dystrophy has been studied with linked DNA polymorphisms as an aid to estimating carrier risks for female relatives. Early work using probes RC8, L1.28, and pXUT23 gave very little clinically useful information because of the high recombination rates between these probes and Duchenne muscular dystrophy and the low proportion of women who were heterozygous. Clinically useful results were obtained using probes 99-6, 754, and particularly pERT87. Examples are given of deductions which can be made using these probes. The importance of a genetic register is stressed as a tool for long term contact with the families and other professionals.
摘要
共有102个患有杜氏肌营养不良症的家庭接受了研究，研究借助连锁DNA多态性来估计女性亲属的携带者风险。早期使用探针RC8、L1.28和pXUT23开展的工作，由于这些探针与杜氏肌营养不良症之间的重组率高以及杂合女性比例低，几乎没有提供临床上有用的信息。使用探针99 - 6、754，尤其是pERT87，获得了临床上有用的结果。文中给出了使用这些探针可进行推断的示例。强调了基因登记作为与家庭和其他专业人员长期联系工具的重要性。
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