title: The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.
abstract: Fanconi anemia (FA) is an autosomal recessive disease for which at least four complementation groups exist. Recently the gene that corrects the defect in Fanconi anemia complementation group C cells (FACC) has been cloned. We have previously identified a common mutation in the FACC gene, which accounts for a majority of FA cases in Ashkenazi Jewish individuals. We here describe the use of allele-specific oligonucleotide (ASO) hybridization to determine the frequency of this mutation among additional Jewish FA patients and to determine the carrier frequency in the Jewish population. The common IVS4 + 4A-->T allele was found on 19/23 (83%) Jewish FA chromosomes, indicating that it is indeed responsible for most cases of FA among Ashkenazi Jews. The carrier frequency was 2/314 for Jewish individuals and the mutant allele was not detected in 130 non-Jewish controls.
authors.affiliation: Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201.
authors.forename: M A
authors.initials: MA
authors.lastname: Whitney
authors.forename: P
authors.initials: P
authors.lastname: Jakobs
authors.forename: M
authors.initials: M
authors.lastname: Kaback
authors.forename: R E
authors.initials: RE
authors.lastname: Moses
authors.forename: M
authors.initials: M
authors.lastname: Grompe
mesh_terms: D005199:Fanconi Anemia / Q000208:ethnology* / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening / Q000379:methods; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D017720:Molecular Epidemiology; D017354:Point Mutation