Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors

H. Steingrimsdottir, G. Rowley, A. Waugh, D. Beare, I. Ceccherini, J. Cole, A. R. Lehmann

Research output: Contribution to journalArticle

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Abstract

Circulating lymphocytes from patients with the DNA-repair-deficient disorders, xeroderma pigmentosum (XP) and ataxia telangiectasia (A-T) have elevated frequencies of mutants at the hypoxanthine-guanine phosphoribosyltransferase (hprt) locus. We have analysed the DNA sequence of the hprt gene in mutants from normal donors, and compared them with mutants from XP and A-T individuals. In normal donors we found a range of mutations including principally transitions (40%), transversions (32%) and small deletions (20%). In an excision-deficient XP donor from complementation group C the mutation spectrum was similar to that from normal donors, whereas in an XP variant there was a significantly higher frequency (44%) of small deletions. In the two A-T donors, there was a high frequency of large deletions (22 and 75%) compared with only 4% in normal donors.

Original languageEnglish
Pages (from-to)29-41
Number of pages13
JournalMutation Research - DNA Repair
Volume294
Issue number1
DOIs
Publication statusPublished - 1993

Fingerprint

DNA Repair-Deficiency Disorders
Hypoxanthine Phosphoribosyltransferase
Lymphocytes
Repair
Genes
Tissue Donors
Ataxia Telangiectasia
Mutation
DNA sequences
DNA
Xeroderma Pigmentosum

Keywords

  • Ataxia telangiectasia
  • Mutation spectra
  • Splicing
  • Xeroderma pigmentosum

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Toxicology

Cite this

Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors. / Steingrimsdottir, H.; Rowley, G.; Waugh, A.; Beare, D.; Ceccherini, I.; Cole, J.; Lehmann, A. R.

In: Mutation Research - DNA Repair, Vol. 294, No. 1, 1993, p. 29-41.

Research output: Contribution to journalArticle

Steingrimsdottir, H. ; Rowley, G. ; Waugh, A. ; Beare, D. ; Ceccherini, I. ; Cole, J. ; Lehmann, A. R. / Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors. In: Mutation Research - DNA Repair. 1993 ; Vol. 294, No. 1. pp. 29-41.
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AU - Ceccherini, I.

AU - Cole, J.

AU - Lehmann, A. R.

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