A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15

被引：426

作者：

Menzel, Stephan

Garner, Chad

Gut, Ivo

Matsuda, Fumihiko

Yamaguchi, Masao

Heath, Simon

Foglio, Mario

Zelenika, Diana

Boland, Anne

Rooks, Helen

Best, Steve

Spector, Tim D.

Farrall, Martin

Lathrop, Mark

Thein, Swee Lay

机构：

[1] Kings Coll London, Sch Med, Div Gene & Cell Based Therapy, London SE5 9PJ, England

[2] Univ Calif Irvine, Dept Med, Div Epidemiol, Irvine, CA 92697 USA

[3] Ctr Natl Genotypage, Inst Genom, Commissariat Lenergie Atom, F-91006 Evry, France

[4] St Thomas Hosp, Univ London Kings Coll, Sch Med, Div Genet & Mol Med, London SE1 7EH, England

[5] Univ Oxford, Wellcome Trust Ctr Human Genet, Dept Cardiovasc Med, Oxford OX3 7BN, England

[6] Kings Coll Hosp London, Dept Haematol Med, London SE5 9RS, England

来源：

NATURE GENETICS | 2007年 / 39卷 / 10期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1038/ng2108

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell disease and beta thalassemia. We applied a genome-wide association mapping strategy to individuals with contrasting extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance.

引用

页码：1197 / 1199

页数：3

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