A locus for hereditary hypotrichosis localized to human chromosome 18q21.1

被引：31

作者：

Rafique, MA

Ansar, M

Jamal, SM

Malik, S

Sohail, M

Faiyaz-Ul-Haque, M

Haque, S

Leal, SM

Ahmad, W ^{[1
]}

机构：

[1] Quaid I Azam Univ, Dept Biol Sci, Islamabad, Pakistan

[2] Univ Oxford, Dept Biochem, Oxford OX1 2JD, England

[3] Hosp Sick Children, Toronto, ON M5G 1X8, Canada

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2003年 / 11卷 / 08期

关键词：

autosomal recessive hypotrichosis; 18q21.1; desmogleins; desmocollins;

D O I：

10.1038/sj.ejhg.5201005

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：

Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (theta = 0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal desmosomes and their connection to the keratin intermediate filaments make these genes excellent candidates for recessive hypotrichosis.

引用

收藏

页码：623 / 628

页数：6

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