ArticleAmerican journal of human genetics1992
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
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 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 74 citations in OpenAlex.
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- Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees.Molecular genetics & genomic medicine · 2018Article
- Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.Molecular genetics & genomic medicine · 2017Article
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.American journal of human genetics · 1997Article
- PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.American journal of human genetics · 1997Article
- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.American journal of human genetics · 1996Article
- Cystic fibrosis carrier screening in Hispanics.American journal of human genetics · 1995Article
- Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.Human genetics · 1994Article
- Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization.American journal of human genetics · 1994Article
- Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)American journal of human genetics · 1994Article
- 394delTT: a Nordic cystic fibrosis mutation.Human genetics · 1994Article
- Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.Human genetics · 1994Article
- Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.American journal of human genetics · 1993Article
- Spectrum of mutations in cystic fibrosis.Journal of bioenergetics and biomembranes · 1993Review
- Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.American journal of human genetics · 1992Article
- Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.American journal of human genetics · 1992Article
- A transformed human epithelial cell line that retains tight junctions post crisis.In vitro cellular & developmental biology : journal of the Tissue Culture AssociationArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To determine the nature and frequency of non-delta F508 cystic fibrosis (CF) mutations among diverse populations, we have sequenced exons 9-12 and 19-23 of the CF transmembrane conductance regulator (CFTR) gene from 128 CF chromosomes (39 U.S. Caucasian, 27 African-American, 42 Northern Irish, and 20 Israeli chromosomes). These regions were chosen because they encode the two putative ATP-binding folds of CFTR, domains which appear to have functional significance. In addition, CFTR exons 1 and 2 were analyzed in the American patients. Mutations were found on 49 of the 128 CF chromosomes. Nineteen different mutations were observed; six were novel, while the remaining 13 had been reported previously by our group or by other investigators. Six of nine different mutations found in African-American patients were unique to that population. However, the vast majority of the mutations found in U.S. Caucasians (eight of nine), Northern Irish (four of five), and Israelis (three of three) also occurred in other Caucasian groups. The preponderance of previously reported mutations in these three groups suggested that a subset of the non-delta F508 mutations occur in common among Caucasians. A survey of mutation frequencies in other Caucasian groups confirmed this observation. Unfortunately, this subset accounts for less than half of non-delta F508 CF mutations in most groups. These data suggest that screening for delta F508 and this select group of mutations will efficiently and economically maximize the number of CF mutations identified in Caucasian groups. However, it will be difficult to detect more than 90% of mutant CFTR alleles except in ethnically and geographically discrete populations where CF is the result of founder effect.
Indexed as
Identifiers
1376017PMC1682572W1895434949What 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.