Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene
- 1 August 1991
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 87 (4) , 457-461
Abstract
A total of 75 non-ΔF508 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) constistent 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.Keywords
This publication has 30 references indexed in Scilit:
- Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) geneGenomics, 1991
- Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cellsNature, 1990
- Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transferCell, 1990
- Identification of the Cystic Fibrosis Gene: Chromosome Walking and JumpingScience, 1989
- Identification of the Cystic Fibrosis Gene: Genetic AnalysisScience, 1989
- Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNAScience, 1989
- PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS BY DNA AMPLIFICATION FOR DETECTION OF KM-19 POLYMORPHISMThe Lancet, 1988
- A long-range restriction map encompassing the cystic fibrosis locus and its closely linked genetic markersGenomics, 1988
- An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA SequencesNew England Journal of Medicine, 1987
- A candidate for the cystic fibrosis locus isolated by selection for methylation-free islandsNature, 1987