A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man
- PMID:6306659
- PMCID: PMC394195
- DOI: 10.1073/pnas.80.13.4035
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man
Abstract
Using cloned cDNA sequences of murine and human hypoxanthine phosphoribosyltransferase (HPRT: IMP: pyrophosphate phosphoribosyltransferase, EC 2.4.2.8), we have identified and characterized a three-allele restriction-fragment-length polymorphism for the restriction endonuclease BamHI at the human HPRT 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. In addition to fragments from the HPRT locus, sequences recognized by both HPRT cDNA probes are also present on at least two autosomes in the human genome. Allele frequencies in an unselected Caucasian population are 0.77 for the 22-kb/25-kb allele. 0.16 for the 12-kb/25-kb allele, and 0.07 for the 22-kb/18-kb allele, resulting in an average heterozygosity of 38% in females in this population. This polymorphism should facilitate gene mapping by linkage in this region of the human X chromosome.
Similar articles
- Bam HI restriction fragment length polymorphisms for hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene of carriers and controls of HPRT deficiency in Japan.Igarashi T, Ikegami H, Yamazaki H, Minami M.Igarashi T, et al.Acta Paediatr Jpn. 1990 Feb;32(1):12-5. doi: 10.1111/j.1442-200x.1990.tb00777.x.Acta Paediatr Jpn. 1990.PMID:1970211
- Organization of the HPRT gene and related sequences in the human genome.Patel PI, Nussbaum RL, gramson PE, Ledbetter DH, Caskey CT, Chinault AC.Patel PI, et al.Somat Cell Mol Genet. 1984 Sep;10(5):483-93. doi: 10.1007/BF01534853.Somat Cell Mol Genet. 1984.PMID:6089358
- Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome.Shimizu N, Konomi H, Arima M, Aoki T.Shimizu N, et al.Acta Paediatr Jpn. 1996 Feb;38(1):36-40. doi: 10.1111/j.1442-200x.1996.tb03432.x.Acta Paediatr Jpn. 1996.PMID:8992857
- Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency.Silverman LJ, Kelley WN, Palella TD.Silverman LJ, et al.Enzyme. 1987;38(1-4):36-44. doi: 10.1159/000469188.Enzyme. 1987.PMID:2894305Review.
- [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].Yamada Y.Yamada Y.Nihon Rinsho. 2008 Apr;66(4):687-93.Nihon Rinsho. 2008.PMID:18409516Review.Japanese.
Cited by
- Stable episomal maintenance of yeast artificial chromosomes in human cells.Simpson K, McGuigan A, Huxley C.Simpson K, et al.Mol Cell Biol. 1996 Sep;16(9):5117-26. doi: 10.1128/MCB.16.9.5117.Mol Cell Biol. 1996.PMID:8756669Free PMC article.
- Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).Camerino G, Grzeschik KH, Jaye M, De La Salle H, Tolstoshev P, Lecocq JP, Heilig R, Mandel JL.Camerino G, et al.Proc Natl Acad Sci U S A. 1984 Jan;81(2):498-502. doi: 10.1073/pnas.81.2.498.Proc Natl Acad Sci U S A. 1984.PMID:6320191Free PMC article.
- Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm.Purrello M, Nussbaum R, Rinaldi A, Filippi G, Traccis S, Latte B, Siniscalco M.Purrello M, et al.Hum Genet. 1984;65(3):295-9. doi: 10.1007/BF00286521.Hum Genet. 1984.PMID:6321326
- Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis.Gibbs DA, Headhouse-Benson CM, Watts RW.Gibbs DA, et al.J Inherit Metab Dis. 1986;9(1):45-57. doi: 10.1007/BF01813902.J Inherit Metab Dis. 1986.PMID:3014211No abstract available.
- Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.Wilson JM, Frossard P, Nussbaum RL, Caskey CT, Kelley WN.Wilson JM, et al.J Clin Invest. 1983 Sep;72(3):767-72. doi: 10.1172/JCI111047.J Clin Invest. 1983.PMID:6309910Free PMC article.
References
Publication types
MeSH terms
Substances
Related information
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Research Materials
Miscellaneous