Phenotype-genotype correlation in CD36 deficiency types I and II

CD36 deficiency was studied with attention to the phenotype-genotype relati onship. 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 wer e found in 8 (1.0%) and 48 (5.8%): respectively. The T for C substitution a t 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 h ad a minor role. In two family studies, we found a previously unreported po lymorphic site in the 5'-proximal flanking region and the 3'-untranslated r egion. Including these new polymorphisms, DNA sequence other than the three known mutations affecting CD36 expression was not observed in the CD36:gen e, calling into question the previous hypothesis that a platelet-specific s ilent allele exists near or at the CD36 gene.