Abstract
HPRT and APRT are the enzymes of salvage pathway in purine metabolism. A virtural absence of HPRT activity is found in patient with Lesch-Nyhan syndrome and patients with APRT deficiency present 2, 8-dihydroxy adenine urolithiasis.
A three-allele restricion fragment length polymorphism (RFLP) has been identified by Bam HI digestion at the human HPRT locus (Nussbaum et al PNAS, 80, 4035, 1983). DNA samples from 35 female and 68 male Japanese were analyzed and allele frequencies were compared with those in Caucasian. They are 0.45 for the 22kb/25kb allele, 0.34 for the 12kb/25kb allele, and 0.21 for the 22kb/18kb allele. Thus, the, frequencies of the 12kb/25kb allele and the 22kb/18kb, allele are apparently higher in Japanese population.
A two allele RFLP for Taq 1 at human APRT locus has been also identified (Stambrook et al, Somat. Cell Mol. Genet. 10, 359, 1984). The alleles are expressed as the fragment of 2.7kb or 2.1kb in size. DNAs of 72 unrelated Japanese individuals were analyzed; 20 individuals were homozygous for the 2.7kb allele, 18 individuals were homozygous for the 2.ikb allele, the remaining 34 individuals were heterozygotes. Thus, the frequencies of two alleles in Japanese population are significantly different from those in Caucasian, since the frequency of 2,7kb allele in the later population is 0.21. Bgl II digestion of DNAs from 114 unrelated individuals produced two different patterns. DNAs of 111 individuals produced a labeled fragment about 14kb in size. The 3 DNA samples produced an additional 17kb band, which was expected by the loss of a Bgl II site located upstream from APRT gene.
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Ogasawara, N., Goto, H. 101 RESTRICTION FRAGMENT LENGTH POLYMORPHISMS OF HPRT AND APRT GENES IN JAPANESE POPULATION. Pediatr Res 24, 128 (1988). https://doi.org/10.1203/00006450-198807000-00125
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DOI: https://doi.org/10.1203/00006450-198807000-00125