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七种DNA探针与杜兴氏和贝克氏肌肉营养不良症的遗传连锁关系。

Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

作者信息

Brown C S, Thomas N S, Sarfarazi M, Davies K E, Kunkel L, Pearson P L, Kingston H M, Shaw D J, Harper P S

出版信息

Hum Genet. 1985;71(1):62-74. doi: 10.1007/BF00295671.

Abstract

The inheritance of seven restriction fragment length polymorphisms detected by DNA probes has been studied in families with Duchenne and Becker muscular dystrophies (DMD and BMD). The probes used have all been mapped to the short arm of the X-chromosome, four being distal and three proximal to the disease loci located within the Xp21 region. Linkage analysis of the DNA polymorphisms in relation to the two disorders showed similar genetic distances. Data obtained from DMD and BMD families have been combined to give more precise values for the different recombination fractions. Combined use of these polymorphic DNA markers will be of practical value in the genetic counselling of women at risk for Duchenne and Becker muscular dystrophy.

摘要

利用DNA探针检测到的七种限制性片段长度多态性的遗传情况,已在患有杜兴氏和贝克氏肌营养不良症(DMD和BMD)的家系中进行了研究。所使用的探针均已定位到X染色体的短臂上,其中四个位于Xp21区域内疾病位点的远端,三个位于近端。对这两种疾病相关的DNA多态性进行连锁分析,结果显示遗传距离相似。从DMD和BMD家系获得的数据已合并,以给出不同重组率的更精确值。联合使用这些多态性DNA标记物,对于有患杜兴氏和贝克氏肌营养不良症风险的女性进行遗传咨询具有实际价值。

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