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

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

SUBMITTER: Fabbro S 

PROVIDER: S-EPMC3069679 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature

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

Fabbro Shay S   Kahr Walter H A WH   Hinckley Jesse J   Wang Kai K   Moseley Jack J   Ryu Gi-Yung GY   Nixon Brie B   White James G JG   Bair Thomas T   Schutte Brian B   Di Paola Jorge J  

Blood 20110124 12

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 Affymetr  ...[more]

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