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Blood, 15 May 2001, Vol. 97, No. 10, pp. 3306-3307

BRIEF REPORT

Human polymorphism of P-selectin glycoprotein ligand 1 attributable to variable numbers of tandem decameric repeats in the mucinlike region

Vahid Afshar-Kharghan, Reyhan Diz-Küçükkaya, Erwin H. Ludwig, Ali J. Marian, and José A. López

From the Departments of Medicine and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and the Gladstone Institute of Cardiovascular Disease, San Francisco, CA.

Platelet GP Ibalpha and leukocyte P-selectin glycoprotein ligand 1 (PSGL-1) are membrane mucins with a number of structural and functional similarities. It was investigated whether, like GP Ibalpha , PSGL-1 is affected by a variable number of tandem repeat polymorphism in its mucin-like region. By polymerase chain reaction amplification of the genomic region encoding the PSGL-1 repeats, 3 allelic variants were identified in the human population. The 3 alleles---A, B, and C---from largest to smallest, contained 16, 15, and 14 decameric repeats, respectively, with the B variant lacking repeat 2 and the C variant retaining repeat 2 but lacking repeats 9 and 10. Allele frequencies were highest for the A variant and lowest for the C variant in the 2 populations studied (frequencies of 0.81, 0.17, and 0.02 in white persons and 0.65, 0.35, and 0.00 in Japanese). Thus, PSGL-1 is highly polymorphic and contains a structural polymorphism that potentially indicates functional variation in the human population.

© 2001 by The American Society of Hematology.
 

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