ArticleHuman genetics1991
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
Article in Human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Cladistic structure within the human Lipoprotein lipase gene and its implications for phenotypic association studies.Genetics · 2000Article
- Recombinational and mutational hotspots within the human lipoprotein lipase gene.American journal of human genetics · 2000Article
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.American journal of human genetics · 1997Article
- Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.Journal of medical genetics · 1996Article
- Clinical features of cystic fibrosis patients with rare genotypes.Journal of medical genetics · 1996Article
- The mutational demography of protein C deficiency.Human genetics · 1995Article
- Achondroplasia is defined by recurrent G380R mutations of FGFR3.American journal of human genetics · 1995Article
- Complete detection of mutations in cystic fibrosis patients of Native American origin.Human genetics · 1994Article
- Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.American journal of human genetics · 1994Article
- Mutation analysis of 184 cystic fibrosis families in Wales.Journal of medical genetics · 1992Article
- Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).Human genetics · 1992Article
- Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.American journal of human genetics · 1992Article
- Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.American journal of human genetics · 1992Article
- Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.Human genetics · 1992Article
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Authors and funding
6 authors.
Funding
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Abstract
A total of 75 non-delta F508 chromosomes from 59 German cystic fibrosis patients was screened for mutations in exon 11 of the cystic fibrosis (CFTR) gene. These Caucasian patients were found to possess an identical haplotype background for two common mutations (G551D, R553X) consistent with their being identical by descent. However, a different R553X associated haplotype found in American black patients was suggestive of recurrent mutation, a postulate supported by the location of the R553X alteration in a hypermutable CpG dinucleotide. Likelihood estimates for recurrent mutation and identity by descent were compared and strongly supported the hypothesis of recurrent R553X mutation. The ability to distinguish between these two alternatives provides an indication of whether or not the search for mutations should be restricted to chromosomes with similar haplotypes.
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