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 language | English (US) |
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Pages (from-to) | 440-442 |
Number of pages | 3 |
Journal | Human Genetics |
Volume | 90 |
Issue number | 4 |
DOIs | |
State | Published - Dec 1992 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)