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先天性全身性多毛症基因座定位于X染色体q24-q27.1区域。

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1.

作者信息

Figuera L E, Pandolfo M, Dunne P W, Cantú J M, Patel P I

机构信息

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.

出版信息

Nat Genet. 1995 Jun;10(2):202-7. doi: 10.1038/ng0695-202.

Abstract

Congenital generalized hypertrichosis (CGH) is a rare, fully penetrant X-linked dominant trait previously described in a single, multigenerational Mexican family. CGH is a visually striking phenotype characterized by excessive facial and upper torso hair in males and by less severe asymmetric hairiness in females. We have found significant evidence for linkage with several markers from the long arm of the X chromosome. Recombinant chromosomes place the CGH gene within a 22 cM interval between DXS425 and DXS1227 in Xq24-Xq27.1. The localization of a gene for CGH represents the first step towards the isolation of genes involved in hair growth pattern, particularly those involved in restriction of areas in humans.

摘要

先天性全身性多毛症(CGH)是一种罕见的、完全显性的X连锁显性性状,此前仅在一个墨西哥多代家族中被描述过。CGH是一种外观显著的表型,其特征为男性面部和上半身毛发过多,女性毛发过多症状较轻且不对称。我们发现有重要证据表明其与X染色体长臂上的多个标记存在连锁关系。重组染色体将CGH基因定位在Xq24 - Xq27.1区域中DXS425和DXS1227之间22厘摩的区间内。CGH基因的定位是朝着分离参与毛发生长模式的基因,尤其是参与人类毛发分布区域限制的基因迈出的第一步。

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