Article
Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.
American journal of human genetics - 1 Oct 1992
Grebe T A, Doane W W, Richter S F, Clericuzio C, Norman R A, Seltzer W K, Rhodes S N, Goldberg B E, Hernried L S, McClure M
Abstract excerpt
We report DNA and clinical analyses of cystic fibrosis (CF) in two previously unstudied, genetically isolated populations: Pueblo and Navajo Native Americans. Direct mutation analysis of six mutations of the CFTR gene--namely, delta F508, G542X, G551D, R553X, N1303K, and W1282X--was performed on PCR-amplified genomic DNA extracted from blood samples. Haplotype analyses with marker/enzyme pairs XV2c/TaqI and...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Exons
- Female
- Genes, Regulator