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. 2011 Mar 24;117(12):3430-4.
doi: 10.1182/blood-2010-12-322990. Epub 2011 Jan 24.

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

Shay Fabbro  1 , 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
Affiliations

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

Shay Fabbro et al. Blood. .

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.

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Figures

Figure 1
Figure 1
GPS characterization and pedigrees. (A) Wright-Giemsa staining of blood smears demonstrates the large size and gray appearance of platelets in the affected person (left panel arrow) compared with her unaffected mother (right panel arrow). (B) Electron microscopy demonstrates the lack of α-granules in a platelet from the same person with GPS (left panel) compared with her mother (right panel). (C) Pedigrees for the 3 families that were analyzed in this study. Families 2 and 3 are Native American from a single settlement. Person 1 from family 1 is of Pakistani origin.
Figure 2
Figure 2
Homozygosity mapping in 3p21. Regions of homozygosity shared by affected persons in 3p21. (Top) Regions exported directly from the Affymetrix Genotyping Console that are homozygous in the patients affected with GPS. A 5-Mb region is expanded below. The genotypes were exported from the Affymetrix Genotyping Console software Version 4.0 into an Excel file. The regions in yellow represent those SNPs where persons are homozygous; green, heterozygotes are heterozygous for the SNPs. The affected are homozygous for most of this 1.7-Mb region between 48.4 and 50.1 Mb. The majority of unaffected persons in families 1 and 2 are heterozygous for most of this region.
See this image and copyright information in PMC

References

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