Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

被引：18

作者：

Fabbro, Shay ^{[1
]}

Kahr, Walter H. A. ^{[2
]}

Hinckley, Jesse ^{[1
]}

Wang, Kai ^{[3
]}

Moseley, Jack ^{[4
]}

Ryu, Gi-Yung ^{[5
]}

Nixon, Brie ^{[1
]}

White, James G. ^{[6
]}

Bair, Thomas ^{[7
]}

Schutte, Brian ^{[8
]}

Di Paola, Jorge ^{[1
]}

机构：

[1] Univ Colorado, Dept Pediat & Genet, Denver, CO 80202 USA

[2] Hosp Sick Children, Res Inst, Dept Paediat, Div Haematol Oncol,Program Cell Biol, Toronto, ON M5G 1X8, Canada

[3] Univ Iowa, Coll Publ Hlth, Dept Biostat, Iowa City, IA USA

[4] No Oklahoma Resource Ctr, Enid, OK USA

[5] Univ Iowa, Inst Clin & Translat Sci, Iowa City, IA USA

[6] Univ Minnesota, Dept Lab Med, Minneapolis, MN 55455 USA

[7] Univ Iowa, DNA Facil, Iowa City, IA USA

[8] Michigan State Univ, Dept Microbiol & Mol Genet, E Lansing, MI 48824 USA

来源：

BLOOD | 2011年 / 117卷 / 12期

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

MUTATION; DNA;

D O I：

10.1182/blood-2010-12-322990

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of alpha-granules in platelets. Patients with GPS present with mild to moderate bleeding and many develop myelofibrosis. The genetic cause of GPS is unknown. We present 2 Native American families with a total of 5 affected persons and a single affected patient of Pakistani origin in which GPS appears to be inherited in an autosomal recessive manner. Homozygosity mapping using the Affymetrix 6.0 chips demonstrates that all 6 GPS-affected persons studied are homozygous for a 1.7-Mb region in 3p21. Linkage analysis confirmed the region with a logarithm of the odds score of 2.7. Data from our families enabled us to significantly decrease the size of the critical region for GPS from the previously reported 9.4-Mb region at 3p21. (Blood. 2011; 117(12):3430-3434)

引用

页码：3430 / 3434

页数：5

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