Molecular analysis of a silent polymorphism in the PDZ domain of p55, the major palmitoylated erythrocyte membrane protein.

Two independently published cDNA sequences of p55, the X-linked major palmitoylated erythrocyte membrane protein, revealed a discrepancy between G and T at position 358 (Genbank: M64925). This results in codon 85, in exon 3 in the PDZ (PSD-95, discs-large, Z0-1) domain, being either ACG or ACT. As both ACG and ACT code for threonine, this represents a silent polymorphism. Polymerase chain reaction (PCR), single-stranded conformational polymorphism (SSCP), and direct-sequencing analysis of exon 3 of the p55 gene was performed in 98 subjects of African and European origin. Of the 70 females studied, the frequency of G versus T at position 358 was 0.76:0.24, while of the 28 males, 16 had a G and 12 a T at position 358 (0.57:0.43). In subjects of African origin, the frequency of G versus T at position 358 was 0.78:0.22; in subjects of European origin the ratio was 0.63:0.37.