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强直性肌营养不良连锁群的新增内容。

Additions to the myotonic dystrophy linkage group.

作者信息

Larsen B, Johnson G, Van Loghem E, Newton R M, Pryse-Phillips W

出版信息

Clin Genet. 1979 Jun;15(6):513-7. doi: 10.1111/j.1399-0004.1979.tb00835.x.

Abstract

One hundred and thirty members of a family with 33 cases of Dystrophia myotonica (Dm) were tested for various genetic markers including Km, Jk, Lu and Se. All individuals tested were Lua negative, but many were heterozygous for the other markers. Except for two cases all patients with Dm were positive for Km3 and Jka and they were secretors. Assuming the genes are linked and that the order of the loci is Km, Jk, Lu, Se, Dm, then there were 22 meioses informative for Dm and in 10 of these a recombination must have occurred between two of the five loci. Looking at individual pairs of loci, there were no recombinations between Km and Jk in seven informative meioses, three recombinations out of 10 meioses informative for Jk/Se, no recombinations between Se and Dm in five informative meioses and three recombinations out of 12 meioses informative for Jk/Dm.

摘要

对一个有33例强直性肌营养不良(Dm)患者的家族中的130名成员进行了包括Km、Jk、Lu和Se在内的多种遗传标记检测。所有检测个体Lua均为阴性,但许多个体在其他标记上为杂合子。除两例患者外,所有Dm患者Km3和Jka均为阳性,且他们都是分泌型。假设这些基因是连锁的,基因座顺序为Km、Jk、Lu、Se、Dm,那么有22次减数分裂对Dm具有信息性,其中10次在五个基因座中的两个之间一定发生了重组。查看各个基因座对,在7次具有信息性的减数分裂中Km和Jk之间没有重组,在10次对Jk/Se具有信息性的减数分裂中有3次重组,在5次对Se和Dm具有信息性的减数分裂中没有重组,在12次对Jk/Dm具有信息性的减数分裂中有3次重组。

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