Complete detection of mutations in cystic fibrosis patients of Native American origin
- 1 December 1994
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 94 (6) , 629-632
Abstract
An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (ΔF508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the entire coding sequence of the CFTR gene in eight Pueblo CF patients. We have identified four different mutations: G542X, R1162X, 3849+10kbC→T, and D648V that account for these 16 haplotypes. The R1162X was found on 11 chromosomes. Using intragenic microsatellites, we have compared the haplotypes of those chromosomes to those of Italian origin where the R1162X mutation was initially reported. These haplotypes turned out to be identical, suggesting a common origin and an admixture with Italian or Spanish settlers, followed by typical founder effect. In contrast the 3849+10kbC→T mutation, which was found on three chromosomes, is associated with different haplotypes than those on chromosomes carrying the same mutation in Caucasians. A novel mutation, D648V, observed on one chromosome has not been found outside the Pueblo population.Keywords
This publication has 27 references indexed in Scilit:
- IDENTIFICATION OF THE M1101K MUTATION IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE AND COMPLETE DETECTION OF CYSTIC-FIBROSIS MUTATIONS IN THE HUTTERITE POPULATION1993
- Geneticists Trace the DNA Trail of the First AmericansScience, 1993
- Identification of 12 novel mutations in the CFTR geneHuman Molecular Genetics, 1993
- Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease.1992
- Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) geneHuman Genetics, 1991
- CAGT Microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingoverGenomics, 1991
- The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequencesGenomics, 1991
- CYSTIC-FIBROSIS MUTATIONS IN NORTH-AMERICAN POPULATIONS OF FRENCH ANCESTRY - ANALYSIS OF QUEBEC FRENCH-CANADIAN AND LOUISIANA ACADIAN FAMILIES1990
- Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium.1990
- Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.Proceedings of the National Academy of Sciences, 1988