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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 Ib 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 Ib , 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.

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