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良性(贝克型)X连锁肌营养不良症基因座与蓝色盲基因座之间的连锁关系。

Linkage between the loci for benign (Becker-type) X-borne muscular dystrophy and deutan colour blindness.

作者信息

Skinner R, Smith C, Emery A E

出版信息

J Med Genet. 1974 Dec;11(4):317-20. doi: 10.1136/jmg.11.4.317.

Abstract

A family is described in which benign Becker type X-linked muscular dystrophy and deutan colour blindness are segregating. The lod scores from this family have been added to those obtained in a family previously reported (Emery 1968/1969) and give an estimate of 0·23 for the recombination fraction with 95% confidence limits of 0·13 to 0·43. These results confirm the linkage relationships between deutan colour blindness and Becker muscular dystrophy but since the loci for Duchenne muscular dystrophy and colour blindness are not within measurable distance of each other these results indicate that the Becker and Duchenne types of X-linked muscular dystrophy are not allelic.

摘要

本文描述了一个家族,其中良性贝克尔型X连锁肌营养不良症和红色盲正在进行分离。这个家族的连锁值已与先前报道的一个家族(埃默里,1968/1969年)所获得的连锁值相加,得出重组率估计值为0.23,95%置信区间为0.13至0.43。这些结果证实了红色盲与贝克尔肌营养不良症之间的连锁关系,但由于杜兴氏肌营养不良症和色盲的基因座彼此之间的距离不可测量,这些结果表明贝克尔型和杜兴氏型X连锁肌营养不良症不是等位基因。

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