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Genetic linkage of Kozak sequence polymorphism of the platelet glycoprotein Ibα with human platelet antigen‐2 and variable number of tandem repeats polymorphism, and its relationship with coronary artery disease
Author(s) -
Ishida Fumihiro,
Ito Toshiro,
Takei Manabu,
Shimodaira Shigetaka,
Kitano Kiyoshi,
Kiyosawa Kendo
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2000.02479.x
Subject(s) - variable number tandem repeat , allele , tandem repeat , platelet membrane glycoprotein , genetics , biology , polymorphism (computer science) , allele frequency , antigen , gene , glycoprotein , genome
The −5 C/T polymorphism of platelet glycoprotein (GP) Ibα is a major determinant of the level of GP Ib/V/IX complex surface expression. We investigated the frequency of this polymorphism among Asian populations. The gene frequencies of cytosine (C) in this polymorphism were 0·283 and 0·219 in Japanese and Korean populations respectively. The C allele is linked with human platelet antigen (HPA)‐2a and smaller types of variable number of tandem repeats (VNTR). A novel allele, C‐HPA‐2a‐D of VNTR, was found. No association was observed between these alleles and coronary artery disease in this case–control study. The clinical relevance of this polymorphism in the thrombotic status remains undetermined.