Mutation analysis of the cystic fibrosis transmembrane regulator gene in native American populations of the southwest
- Arizona State Univ., Tempe, AZ (United States) Maricopa Medical Center, Phoenix, AZ (United States)
- Arizona State Univ., Tempe, AZ (United States)
- Univ. of Arizona, Tucson, AZ (United States)
- Univ. of New Mexico, Albuquerque, NM (United States)
- Univ. of Colorado Health Science Center, Denver, CO (United States)
- Public Health Service Indian Hospital, Zuni, NM (United States)
- Children's Hospital, Phoenix, AZ (United States)
The authors report DNA and clinical analysis 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 KM29/PstI were performed as well. Of the 12 affected individuals studied, no [Delta]F508 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 haplotye 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 microcephalic, a finding not previously noted in CF patients. The DNA data have serious implications for risk assessment of CF carrier status for these people. 14 refs., 3 tabs.
- OSTI ID:
- 5031334
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 51:4; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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