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

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
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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