D. Kessler et al., DETERMINATION OF CYSTIC-FIBROSIS CARRIER FREQUENCY FOR ZUNI NATIVE-AMERICANS OF NEW-MEXICO, Clinical genetics, 49(2), 1996, pp. 95-97
The Zuni native Americans of the Southwest have an incidence of cystic
fibrosis of approximately one in 333 or seven and one-half times that
found for Caucasians. Earlier studies indicated that dF508 was not am
ong the cystic fibrosis mutations causing this disease. Through a coll
aborative study the R1162X mutation was found on 12 out of 12 cystic f
ibrosis chromosomes from six Zuni patients. Because of the relative hi
gh incidence of cystic fibrosis, we undertook a study to determine the
carrier frequency of the R1162X mutation among randomly sampled indiv
iduals. We found the carrier frequency in the general population for t
he R1162X to be 6.7%, a very significant number when compared with the
carrier frequency for all cystic fibrosis mutations in the Caucasian
population of approximately 4%.