TY - JOUR
T1 - Cystic fibrosis mutations in North American populations of French ancestry
T2 - Analysis of Quebec French-Canadian and Louisiana Acadian families
AU - Rozen, Rima
AU - Schwartz, Robert H.
AU - Hilman, Bettina C.
AU - Stanislovitis, Pat
AU - Horn, Glenn T.
AU - Klinger, Katherine
AU - Daigneault, Jocelyne
AU - De Braekeleer, Marc
AU - Kerem, Bat Sheva
AU - Tsui, Lap Chee
AU - Fujiwara, T. Mary
AU - Morgan, Kenneth
PY - 1990/10
Y1 - 1990/10
N2 - A 3-bp deletion (ΔF508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry: French-Canadian families referred from hospitals in three cities in Quebec and from the Saguenay-Lac St. Jean region of northeastern Quebec and Acadian families living in Louisiana. ΔF508 was present on 71%, 55%, and 70% of the CF chromosomes from the major-urban Quebec, Saguenay-Lac St. Jean, and Louisiana Acadian families, respectively. A weighted estimate of the proportion of ΔF508 in the French-Canadian patient population of Quebec was 70%. We found that 95% of the CF chromosomes with ΔF508 had D7S23 haplotype B, the most frequent haplotype on CF chromosomes. In the Saguenay-Lac St. Jean families, 86% of the CF chromosomes without ΔF508 had the B haplotype, compared with 31% for the major-urban Quebec and Louisiana Acadian families. The incidence of CF in the Saguenay-Lac St. Jean population was 1/895 live-born infants.
AB - A 3-bp deletion (ΔF508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry: French-Canadian families referred from hospitals in three cities in Quebec and from the Saguenay-Lac St. Jean region of northeastern Quebec and Acadian families living in Louisiana. ΔF508 was present on 71%, 55%, and 70% of the CF chromosomes from the major-urban Quebec, Saguenay-Lac St. Jean, and Louisiana Acadian families, respectively. A weighted estimate of the proportion of ΔF508 in the French-Canadian patient population of Quebec was 70%. We found that 95% of the CF chromosomes with ΔF508 had D7S23 haplotype B, the most frequent haplotype on CF chromosomes. In the Saguenay-Lac St. Jean families, 86% of the CF chromosomes without ΔF508 had the B haplotype, compared with 31% for the major-urban Quebec and Louisiana Acadian families. The incidence of CF in the Saguenay-Lac St. Jean population was 1/895 live-born infants.
UR - https://www.scopus.com/pages/publications/0025116143
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C2 - 2220803
AN - SCOPUS:0025116143
SN - 0002-9297
VL - 47
SP - 606
EP - 610
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -
