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

✍ Scribed by Natalie Groves; Paul N. Baird; Annette Hogg; John K. Cowell

Publisher: Springer
Year: 1992
Tongue: English
Weight: 669 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00220474

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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