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

Reiss, Jochen, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Bal, Jerzy, Slomski, Ryszard, Cutting, Garry R. and Krawczak, Michael 1991. Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Human Genetics -Berlin- 87 (4) , pp. 457-461. 10.1007/BF00197168

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer Verlag
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:21
URI:	https://orca.cardiff.ac.uk/id/eprint/62037

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