title: Population variation at the polymorphic ApaLI restriction enzyme site in intron 5 of the WT1 gene.
abstract: We examined 63 unrelated individuals from the United States for the Apa-LI polymorphism in intron 5 of the WT1 gene. Allele frequencies of 0.13 and 0.87 for the A and B alleles, respectively, and a heterozygosity index of 24% contrast sharply with previous data obtained in the Japanese population where allele frequencies of 0.55 and 0.45 for the A and B alleles and a heterozygosity index of 59% were reported. These data suggest genetic heterogeneity at the WT1 locus, which may contribute to the differences in the incidence of Wilms tumor between the two population groups.
authors.affiliation: Ludwig Institute for Cancer Research, La Jolla, CA 93093-0660, USA.
authors.forename: C
authors.initials: C
authors.lastname: Besnard-Guérin
authors.forename: R
authors.initials: R
authors.lastname: Winqvist
authors.forename: I
authors.initials: I
authors.lastname: Newsham
authors.forename: W K
authors.initials: WK
authors.lastname: Cavenee
mesh_terms: D000483:Alleles; D004268:DNA-Binding Proteins / Q000235:genetics; D004843:Epistasis, Genetic; D005787:Gene Frequency; D016162:Genes, Wilms Tumor; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007438:Introns / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D007680:Kidney Neoplasms / Q000453:epidemiology / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics; D014481:United States / Q000453:epidemiology; D025721:WT1 Proteins; D009396:Wilms Tumor / Q000453:epidemiology / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; D025721:WT1 Proteins