A GENE FOR ULNAR-MAMMARY SYNDROME MAPS TO 12Q23-Q24.1

被引：28

作者：

BAMSHAD, M ^{[1
]}

KRAKOWIAK, PA ^{[1
]}

WATKINS, WS ^{[1
]}

ROOT, S ^{[1
]}

CAREY, JC ^{[1
]}

JORDE, LB ^{[1
]}

机构：

[1] UNIV UTAH, HLTH SCI CTR, DEPT HUMAN GENET, SALT LAKE CITY, UT 84112 USA

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 10期

关键词：

D O I：

10.1093/hmg/4.10.1973

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and genital anomalies, We report the mapping of a gene causing UMS to chromosome 12q23-24.1. Linkage analysis generated a positive led score of 6.21 at theta = 0.00 with the marker D12S79, and recombinants bracket the UMS gene to a 21 cM region. This region contains a locus for Holt-Oram syndrome (HOS) suggesting that the genes for UMS and HOS may be allelic or closely linked. The identification of the gene causing UMS will be an important step toward understanding the molecular mechanisms that control limb and apocrine gland development.

引用

页码：1973 / 1977

页数：5

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