A single base pair polymorphism in the WT1 gene detected by single-strand conformation polymorphism analysis.
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.
Groves
N
N
Haematology and Oncology Unit, Institute of Child Health, London, UK.
Baird
P N
PN
Hogg
A
A
Cowell
J K
JK
D001483:Base Sequence; D004277:DNA, Single-Stranded; D005091:Exons; D016162:Genes, Wilms Tumor; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D004277:DNA, Single-Stranded