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人类中的X染色体定位:无汗性外胚层发育不良与葡萄糖-6-磷酸脱氢酶缺乏症之间不存在可测量连锁关系的证据。

X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.

作者信息

Filippi G, Rinaldi A, Crisponi G, Daniels G L, Siniscalco M

出版信息

J Med Genet. 1979 Jun;16(3):223-4. doi: 10.1136/jmg.16.3.223.

Abstract

A Sardinian kindred segregating for X-linked anhidrotic ectodermal dysplasia (AED), glucose-6-phosphate dehydrogenase (G6PD) deficiency of Mediterranean type, and Xga blood antigen provides evidence against a measurable linkage between the loci for AED and G6PD. Moreover, from the segregation of the combined phenotypes in four scorable sons from two triple heterozygotes with phase known, it seems highly probable that the AED locus is nearer to the centromere than is the G6PD locus.

摘要

一个撒丁岛家族,其成员患有X连锁无汗性外胚层发育不良(AED)、地中海型葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症以及Xga血型抗原,这为AED和G6PD基因座之间不存在可测量的连锁关系提供了证据。此外,从两个已知相位的三联杂合子的四个可计分儿子中联合表型的分离情况来看,AED基因座似乎比G6PD基因座更靠近着丝粒。

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