Bam HI restriction fragment length polymorphisms for hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene of carriers and controls of HPRT deficiency in Japan.

Three-allele restriction fragment length polymorphisms (RFLPs) for the restriction endonuclease Bam HI are known at the hypoxanthine-guanine phosphoribosyltransferase (HPRT, E.C.2.4.2.8.) gene locus. The alleles are expressed phenotypically on Southern blots as three distinct pairs of fragments that hybridize to HPRT cDNA: i) a 22-kilobase (kb)/25-kb pair, ii) a 12-kb/25-kb pair, and iii) a 22-kb/18-kb pair. Allele frequencies in 119 unrelated Japanese people were 0.38 for the 22-kb/25-kb allele, 0.43 for the 12-kb/25-kb allele, and 0.19 for the 22-kb/18-kb allele, an average heterozygosity of 66% in Japanese females, a higher rate than in Caucasian females. Five out of nine carriers of partial or complete HPRT deficiency showed heterozygous patterns for Bam HI RFLPs.