TY - JOUR
T1 - Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
AU - Abeliovich, D.
AU - Lavon, I. P.
AU - Lerer, I.
AU - Cohen, T.
AU - Springer, C.
AU - Avital, A.
AU - Cutting, G. R.
PY - 1992/1/1
Y1 - 1992/1/1
N2 - To determine the distribution and frequency of cystic fibrosis (CF) mutations in the Israeli population, we have screened 96 patients for 11 relatively common mutations. Five mutations-ΔF508, G542X, W1282X, N1303K, and 3849 + 10kb C→T-were found to account for 97% of the CF alleles in the Ashkenazi Jews. In contrast, of the 11 mutations tested, only ΔF508 was detected in Jewish patients of Sephardic or Oriental origin, accounting for 43% of the CF alleles. Four mutations-ΔF508, G542X, W1282X, and N1303K- accounted for 55% of the CF alleles in Arab patients. In a pilot screening study, a random sample of 424 Ashkenazi individuals was analyzed for three mutations-ΔF508, W1282X, and G542X. Thirteen individuals were detected as heterozygotes (six for ΔF508 and seven for W1282X), predicting a heterozygote frequency of 1:29. This is similar to the frequency of carriers in the Caucasian population of northern European ancestry. On the basis of these data, the Ashkenazi population is considered to be a candidate for CF heterozygote screening.
AB - To determine the distribution and frequency of cystic fibrosis (CF) mutations in the Israeli population, we have screened 96 patients for 11 relatively common mutations. Five mutations-ΔF508, G542X, W1282X, N1303K, and 3849 + 10kb C→T-were found to account for 97% of the CF alleles in the Ashkenazi Jews. In contrast, of the 11 mutations tested, only ΔF508 was detected in Jewish patients of Sephardic or Oriental origin, accounting for 43% of the CF alleles. Four mutations-ΔF508, G542X, W1282X, and N1303K- accounted for 55% of the CF alleles in Arab patients. In a pilot screening study, a random sample of 424 Ashkenazi individuals was analyzed for three mutations-ΔF508, W1282X, and G542X. Thirteen individuals were detected as heterozygotes (six for ΔF508 and seven for W1282X), predicting a heterozygote frequency of 1:29. This is similar to the frequency of carriers in the Caucasian population of northern European ancestry. On the basis of these data, the Ashkenazi population is considered to be a candidate for CF heterozygote screening.
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M3 - Article
C2 - 1384328
AN - SCOPUS:0026699908
SN - 0002-9297
VL - 51
SP - 951
EP - 956
JO - American journal of human genetics
JF - American journal of human genetics
IS - 5
ER -