Phenotype-genotype Correlation in CD36 Deficiency Types I and II

Hidekatsu Yanai; Hitoshi Chiba; Hironobu Fujiwara; Mie Morimoto; Keisuke Abe; Shigeru Yoshida; Yukihiro Takahashi; Hirotoshi Fuda; Shu-Ping Hui; Harukuni Akita; Kunihiko Kobayashi; Kazuhiko Matsuno

doi:10.1055/s-0037-1614041

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2000; 84(03): 436-441
DOI: 10.1055/s-0037-1614041

Commentary

Schattauer GmbH

Phenotype-genotype Correlation in CD36 Deficiency Types I and II

Hidekatsu Yanai

¹From the Department of Laboratory Medicine, Sapporo, Japan

²Department of Pediatrics, Sapporo, Japan

,

Hitoshi Chiba

¹From the Department of Laboratory Medicine, Sapporo, Japan

,

Hironobu Fujiwara

¹From the Department of Laboratory Medicine, Sapporo, Japan

²Department of Pediatrics, Sapporo, Japan

,

Mie Morimoto

⁴College of Medical Technology, Hokkaido University, Sapporo, Japan

,

Keisuke Abe

³Internal Medicine III, Hokkaido University School of Medicine, Sapporo, Japan

,

Shigeru Yoshida

¹From the Department of Laboratory Medicine, Sapporo, Japan

,

Yukihiro Takahashi

¹From the Department of Laboratory Medicine, Sapporo, Japan

²Department of Pediatrics, Sapporo, Japan

,

Hirotoshi Fuda

¹From the Department of Laboratory Medicine, Sapporo, Japan

,

Shu-Ping Hui

¹From the Department of Laboratory Medicine, Sapporo, Japan

²Department of Pediatrics, Sapporo, Japan

,

Harukuni Akita

¹From the Department of Laboratory Medicine, Sapporo, Japan

,

Kunihiko Kobayashi

²Department of Pediatrics, Sapporo, Japan

,

Kazuhiko Matsuno

⁴College of Medical Technology, Hokkaido University, Sapporo, Japan

› Institutsangaben

Abstract

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.

Key words

Platelet - monocyte - expression - flow cytometry - gene

Volltext

Referenzen

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