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Phenotype-genotype Correlation in CD36 Deficiency Types I and II

Journal: Thrombosis and Haemostasis
ISSN: 0340-6245
Issue: 2000: 84/3 (Sept) pp.362-522
Pages: 436-441
Ahead of Print: ###MANUSCRIPT_aheadofprint###

Phenotype-genotype Correlation in CD36 Deficiency Types I and II

Hidekatsu Yanai (1), (2) , Hitoshi Chiba (1) , Hironobu Fujiwara (1),(2) , Mie Morimoto (4) , Keisuke Abe (3) , Shigeru Yoshida (1) , Yukihiro Takahashi (1), (2) , Hirotoshi Fuda (1) , Shu-Ping Hui (1),(2) , Harukuni Akita (1) , Kunihiko Kobayashi (2) ,
From the Departments of (1) Laboratory Medicine, (2) Pediatrics, and (3) Internal Medicine III, Hokkaido University School of Medicine, Sapporo, Japan, and the (4) College of Medical Technology, Hokkaido University, Sapporo, Japan

Summary

CD36 deficiency was studied with attention to the phenotypegenotype relationship. The diagnosis of CD36 deficiency was made when CD36 was negative on platelets (type II) or on both platelets and monocytes (type I). Among 827 apparently healthy Japanese volunteers, the type I and II deficiencies were found in 8 (1.0%) and 48 (5.8%), respectively. The T for C substitution at nt478 for Pro90Ser and the insertion of A at nt1159 constituted the major causes of type I and II deficiencies. The dinucleotide deletion at nt539 had a minor role. In two family studies, we found a previously unreported polymorphic site in the 5’-proximal flanking region and the 3’-untranslated region. Including these new polymorphisms, DNA sequence other than the three known mutations affecting CD36 expression was not observed in the CD36 gene, calling into question the previous hypothesis that a platelet-specific silent allele exists near or at the CD36 gene.

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