A single base pair polymorphism in the WT1 gene detected by single-strand conformation polymorphism analysis

Natalie Groves, Paul N. Baird, Annette Hogg, John K. Cowell

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

The Wilms' tumor predisposition gene, WT1, was analysed exon-by-exon in a variety of tumours using the single-strand conformation polymorphism (SSCP) technique. A consistent variation in the usual band pattern for exon 7 was detected in this survey. On sequencing, a silent mutation was noted in codon 313 resulting in an A→G transition in an arginine codon. The A→G transition destroys an AflIII restriction enzyme recognition site, which provides a rapid means of identifying heterozygotes at this locus. Analysis of the segregation of this polymorphism in families demonstrated a co-dominant inheritance pattern. In an analysis of 21 randomly selected individuals 25% were heterozygous at this locus, which makes this polymorphism useful in a variety of genetic analyses.

Original languageEnglish (US)
Pages (from-to)440-442
Number of pages3
JournalHuman Genetics
Volume90
Issue number4
DOIs
StatePublished - Dec 1 1992

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Base Pairing
Exons
Codon
Wilms' Tumor Genes
Genes
Inheritance Patterns
Heterozygote
Arginine
Enzymes
Neoplasms
Surveys and Questionnaires
Silent Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A single base pair polymorphism in the WT1 gene detected by single-strand conformation polymorphism analysis. / Groves, Natalie; Baird, Paul N.; Hogg, Annette; Cowell, John K.

In: Human Genetics, Vol. 90, No. 4, 01.12.1992, p. 440-442.

Research output: Contribution to journalArticle

Groves, Natalie ; Baird, Paul N. ; Hogg, Annette ; Cowell, John K. / A single base pair polymorphism in the WT1 gene detected by single-strand conformation polymorphism analysis. In: Human Genetics. 1992 ; Vol. 90, No. 4. pp. 440-442.
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