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

Shay Fabbro; Walter H A Kahr; Jesse Hinckley; Kai Wang; Jack Moseley; Gi-Yung Ryu; Brie Nixon; James G White; Thomas Bair; Brian Schutte; Jorge Di Paola

doi:10.1182/blood-2010-12-322990

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

Journal article

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

Shay Fabbro, Walter H A Kahr, Jesse Hinckley, Kai Wang, Jack Moseley, Gi-Yung Ryu, Brie Nixon, James G White, Thomas Bair, Brian Schutte, …

Blood, Vol.117(12), pp.3430-3434

03/24/2011

DOI: 10.1182/blood-2010-12-322990

PMCID: PMC3069679

PMID: 21263149

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Abstract

Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of α-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.

Family

Microarray Analysis - methods

Genes, Recessive - genetics

Genetic Linkage - physiology

Humans

Gray Platelet Syndrome - genetics

Male

Genetic Loci

Case-Control Studies

Homozygote

Pedigree

Chromosome Mapping - methods

Female

Polymorphism, Single Nucleotide

Chromosomes, Human, Pair 3 - genetics

Cluster Analysis

Details

Title: Subtitle: Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly
Creators: Shay Fabbro - Department of Pediatrics and Genetics, University of Colorado, Denver, CO, USA
Walter H A Kahr
Jesse Hinckley
Kai Wang
Jack Moseley
Gi-Yung Ryu
Brie Nixon
James G White
Thomas Bair
Brian Schutte
Jorge Di Paola
Resource Type: Journal article
Publication Details: Blood, Vol.117(12), pp.3430-3434
Publisher: United States
DOI: 10.1182/blood-2010-12-322990
PMID: 21263149
PMCID: PMC3069679
ISSN: 0006-4971
eISSN: 1528-0020
Grant note: MOP-81208 / Canadian Institutes of Health Research R01 HL084086-01 / NHLBI NIH HHS R01 HL084086 / NHLBI NIH HHS
Language: English
Date published: 03/24/2011
Academic Unit: ICTS - Biomedical Informatics; Biostatistics
Record Identifier: 9983997465002771

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