title: Bam HI restriction fragment length polymorphisms for hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene of carriers and controls of HPRT deficiency in Japan.
abstract: 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Igarashi
authors.forename: H
authors.initials: H
authors.lastname: Ikegami
authors.forename: H
authors.initials: H
authors.lastname: Yamazaki
authors.forename: M
authors.initials: M
authors.lastname: Minami
mesh_terms: D015139:Blotting, Southern; D015245:Deoxyribonuclease BamHI / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007564:Japan; D008297:Male; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase; D015245:Deoxyribonuclease BamHI