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X连锁外胚层发育不良与一个克隆的DNA序列之间的紧密连锁,该序列可检测Xp11-q12区域的双等位基因限制性片段长度多态性。

Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12.

作者信息

Kølvraa S, Kruse T A, Jensen P K, Linde K H, Vestergaard S R, Bolund L

出版信息

Hum Genet. 1986 Nov;74(3):284-7. doi: 10.1007/BF00282550.

Abstract

EDA (ectodermal dysplasia, anhidrotic) is an X-linked recessive disorder characterized by hypohidrosis, hypoor anodontia, and hypotrichosis. A possible linkage between the gene for EDA and a number of restriction fragment length polymorphisms (RFLPs) spread over the X chromosome was investigated in two Danish families segregating EDA. No recombination between the gene for EDA and our probe pTAK8, which detects a two allele polymorphism in the region Xp11-q12, was found in nine informative meiotic events (seven of which are phase known), giving a maximal lod score of 2.41 at a recombination fraction of 0.00. This juxtacentromeric location of the gene for EDA agrees well with the linkage data obtained with the other markers used in this study.

摘要

无汗性外胚层发育不良(EDA)是一种X连锁隐性疾病,其特征为少汗、牙发育不全或无牙以及毛发稀少。在两个分离EDA的丹麦家族中,研究了EDA基因与分布在X染色体上的多个限制性片段长度多态性(RFLP)之间的可能连锁关系。在9次信息性减数分裂事件(其中7次相位已知)中,未发现EDA基因与我们检测Xp11-q12区域两个等位基因多态性的探针pTAK8之间发生重组,在重组率为0.00时,最大连锁lod值为2.41。EDA基因的这种近着丝粒位置与本研究中使用的其他标记获得的连锁数据非常吻合。

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