Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

D. Abeliovich, I. P. Lavon, I. Lerer, T. Cohen, C. Springer, A. Avital, G. R. Cutting

Research output: Contribution to journalArticlepeer-review

128 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)951-956
Number of pages6
JournalAmerican journal of human genetics
Volume51
Issue number5
StatePublished - Jan 1 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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