ArticleAmerican journal of human genetics1992
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 150 citations in OpenAlex.
- Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.Journal of clinical medicine · 2025Article
- Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy.Nature communications · 2022Article
- Article
- Syntaxin 8 and the Endoplasmic Reticulum Processing of ΔF508-CFTR.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2018Article
- Deep intronic mutations and human disease.Human genetics · 2017Review
- Differential analysis of mutations in the Jewish population and their implications for diseases.Genetics research · 2017Article
- Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Molecular genetics & genomic medicine · 2017Article
- Cystic fibrosis: current therapeutic targets and future approaches.Journal of translational medicine · 2017Review
- Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Long-term follow-up of distal intestinal obstruction syndrome in cystic fibrosis.World journal of gastroenterology · 2015Observational
- CFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study.Indian journal of clinical biochemistry : IJCB · 2015Article
- Assessing the Disease-Liability of Mutations in CFTR.Cold Spring Harbor perspectives in medicine · 2012Article
- Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.The Journal of molecular diagnostics : JMD · 2008Article
- Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.BMC medical genetics · 2004Article
- Update and Review: Cystic Fibrosis.Journal of genetic counseling · 1999Article
- Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.American journal of human genetics · 1999Article
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.American journal of human genetics · 1997Article
- Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.Human genetics · 1995Article
- CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.American journal of human genetics · 1995Article
- Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.Human genetics · 1995Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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--delta F508, 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 delta F508 was detected in Jewish patients of Sephardic or Oriental origin, accounting for 43% of the CF alleles. Four mutations--delta F508, 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--delta F508, W1282X, and G542X. Thirteen individuals were detected as heterozygotes (six for delta F508 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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1384328PMC1682830W224285268What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.