A single base pair polymorphism in the WT1 gene detected by single-strand conformation polymorphism analysis |
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Authors: | Natalie Groves Paul N Baird Annette Hogg John K Cowell |
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Institution: | (1) ICFR Oncology Group, Haematology and Oncology Unit, Institute of Child Health, 30 Guilford Street, WC1N1EH London, UK |
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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. |
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