Discrimination between recurrent mutation and identity by descent : application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

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 be...

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Bibliographic Details
Published in:Human genetics 1991-08, Vol.87 (4), p.457-461
Main Authors: REISS, J, COOPER, D. N, BAL, J, SLOMSKI, R, CUTTING, G. R, KRAWCZAK, M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator
Dinucleoside Phosphates - genetics
Exons
Female
Gastroenterology. Liver. Pancreas. Abdomen
Gene Frequency
Genotype
Haplotypes
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Membrane Proteins - genetics
Mutation
Other diseases. Semiology
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Restriction Mapping
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00197168