Summary

CD36 deficiency was studied with attention to the phenotypegenotyperelationship. The diagnosis of CD36 deficiency was madewhen CD36 was negative on platelets (type II) or on both platelets andmonocytes (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 theinsertion of A at nt1159 constituted the major causes of type I and IIdeficiencies. The dinucleotide deletion at nt539 had a minor role.In two family studies, we found a previously unreported polymorphicsite in the 5’-proximal flanking region and the 3’-untranslated region.Including these new polymorphisms, DNA sequence other than thethree known mutations affecting CD36 expression was not observed inthe CD36 gene, calling into question the previous hypothesis that aplatelet-specific silent allele exists near or at the CD36 gene.