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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1992 Oct;51(4):736–740.

Mutation analysis of the cystic fibrosis transmembrane regulator gene in native American populations of the southwest

Theresa A Grebe, Winifred W Doane, Sarah F Richter, Carol Clericuzio, R A Norman, William K Seltzer, Susan N Rhodes, Bruce E Goldberg, Lucy S Hernried, Melody McClure, Gail Kaplan
PMCID: PMC1682804  PMID: 1384321

Abstract

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, ΔF508, 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 KM19/PstI were performed as well. Of the 12 affected individuals studied, no ΔF508 mutation was detected; only one G542X mutation was found. None of the other mutations was detected. All affected individuals have either an AA, AC, or CC haplotype, except for the one carrying the G542X mutation, who has the haplotype AB. Clinically, six of the affected individuals examined exhibit growth deficiency, and five (all from the Zuni Pueblo) have a severe CF phenotype. Four of the six Zunis with CF are also micro-cephalic, a finding not previously noted in CF patients. Our DNA data have serious implications for risk assessment of CF carrier status for these people.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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