Literature DB >> 4868511

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

B R Migeon, V M Der Kaloustian, W L Nyhan, W J Yough, B Childs.   

Abstract

Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of (3)H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate (3)H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.

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Year:  1968        PMID： 4868511     DOI： 10.1126/science.160.3826.425

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  59 in total

1.  Half chromatid mutations: transmission in humans?

Authors:  S M Gartler; U Francke
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

2.  Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase.

Authors:  R C Yen; W B Adams; C Lazar; M A Becker
Journal:  Proc Natl Acad Sci U S A       Date:  1978-01       Impact factor: 11.205

3.  Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type).

Authors:  G Romeo; A Rinaldi; F Urbano; G Filippi
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

4.  Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.

Authors:  P Hösli; C H de Bruyn; F J Oerlemans; M Verjaal; R E Nobrega
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

5.  Transfer of cloned human class I major histocompatibility complex genes into HLA mutant human lymphoblastoid cells.

Authors:  Y Shimizu; B Koller; D Geraghty; H Orr; S Shaw; P Kavathas; R DeMars
Journal:  Mol Cell Biol       Date:  1986-04       Impact factor: 4.272

6.  X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors:  F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

7.  Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.

Authors:  B Bakay; W L Nyhan
Journal:  Proc Natl Acad Sci U S A       Date:  1972-09       Impact factor: 11.205

8.  Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures.

Authors:  T R Skopek; L Recio; D Simpson; L Dallaire; S B Melancon; H Ogier; J P O'Neill; M T Falta; J A Nicklas; R J Albertini
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

9.  Purine metabolism in normal and thioguanine-resistant neuroblastoma.

Authors:  A W Wood; M A Becker; J D Minna; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1973-12       Impact factor: 11.205

Review 10.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132
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