Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly.
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.
Department of Pediatrics and Genetics, University of Colorado, Denver, CO, USA.
Shay
S
Fabbro
Walter H A
WH
Kahr
Jesse
J
Hinckley
Kai
K
Wang
Jack
J
Moseley
Gi-Yung
GY
Ryu
Brie
B
Nixon
James G
JG
White
Thomas
T
Bair
Brian
B
Schutte
Jorge
J
Di Paola
D016022:Case-Control Studies; D002874:Chromosome Mapping / Q000379:methods*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D016000:Cluster Analysis; D005190:Family; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000502:physiology; D056426:Genetic Loci; D055652:Gray Platelet Syndrome / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide
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