title: Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency.
abstract: In the community of the Orthodox Jews most of the marriages are arranged a screening program that is aimed at preventing the marriage of two carriers of autosomal recessive disorders is conducted by the Dor Yesharim organization. A random sample of 6,076 individuals of the Orthodox Jewish Ashkenazi community, were screened for the five mutations common in Ashkenazi patients (delta F508, W1282X, G542X, N1303K, 3849 + 10Kb C-->T). Two hundred thirty-two carriers were identified, giving a heterozygote frequency of 1:26. The relative frequencies of the individual mutations in the general population were comparable to those in the patients.
authors.affiliation: Department of Human Genetics, Hadassah Hebrew University Hospital, Hebrew University Hadassah Medical School, Jerusalem, Isreal.
authors.forename: D
authors.initials: D
authors.lastname: Abeliovich
authors.forename: A
authors.initials: A
authors.lastname: Quint
authors.forename: N
authors.initials: N
authors.lastname: Weinberg
authors.forename: G
authors.initials: G
authors.lastname: Verchezon
authors.forename: I
authors.initials: I
authors.lastname: Lerer
authors.forename: J
authors.initials: J
authors.lastname: Ekstein
authors.forename: E
authors.initials: E
authors.lastname: Rubinstein
mesh_terms: D000293:Adolescent; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male