Phenotype-genotype Correlation in CD36 Deficiency Types I and II

• DOI: 10.1055/s-0037-1614041
• Publication Date: 2018-03-22T09:46:03Z
• Authors: Hidekatsu Yanai; Hironobu Fujiwara; Mie Morimoto; Keisuke Abe; Shigeru Yoshida; Yukihiro Takahashi; Hirotoshi Fuda; Shu-Ping Hui; Harukuni Akita; Kunihiko Kobayashi; Kazuhiko Matsuno; Hitoshi Chiba
• Keywords: CD36

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