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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
1   From the Department of Laboratory Medicine, Sapporo, Japan
2   Department of Pediatrics, Sapporo, Japan
,
Hitoshi Chiba
1   From the Department of Laboratory Medicine, Sapporo, Japan
,
Hironobu Fujiwara
1   From the Department of Laboratory Medicine, Sapporo, Japan
2   Department of Pediatrics, Sapporo, Japan
,
Mie Morimoto
4   College of Medical Technology, Hokkaido University, Sapporo, Japan
,
Keisuke Abe
3   Internal Medicine III, Hokkaido University School of Medicine, Sapporo, Japan
,
Shigeru Yoshida
1   From the Department of Laboratory Medicine, Sapporo, Japan
,
Yukihiro Takahashi
1   From the Department of Laboratory Medicine, Sapporo, Japan
2   Department of Pediatrics, Sapporo, Japan
,
Hirotoshi Fuda
1   From the Department of Laboratory Medicine, Sapporo, Japan
,
Shu-Ping Hui
1   From the Department of Laboratory Medicine, Sapporo, Japan
2   Department of Pediatrics, Sapporo, Japan
,
Harukuni Akita
1   From the Department of Laboratory Medicine, Sapporo, Japan
,
Kunihiko Kobayashi
2   Department of Pediatrics, Sapporo, Japan
,
Kazuhiko Matsuno
4   College of Medical Technology, Hokkaido University, Sapporo, Japan
› Author AffiliationsWe thank Chiaki Watanabe, Koji Hayasaka, Hideki Shimamura, and Ayano Sasaki for technical help. We obtained consent from all volunteers. This work was supported by Grant-in-Aid No. 09208202, 10115202, and 09672345 for Scientific Research from Ministry of Education, Science, and Culture, Japan. S.-P. Hui was supported by Postdoctoral Fellowship for Foreign Researchers from Japan Society for the Promotion of Science.
Further Information

Publication History

Received 21 January 2000

Accepted after resubmission 23 March 2000

Publication Date:
14 December 2017 (online)

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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
 

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