Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency.
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.
Abeliovich
D
D
Department of Human Genetics, Hadassah Hebrew University Hospital, Hebrew University Hadassah Medical School, Jerusalem, Isreal.
Quint
A
A
Weinberg
N
N
Verchezon
G
G
Lerer
I
I
Ekstein
J
J
Rubinstein
E
E
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