Molecular and Genetic Analyses at the CF Locus

Cystic fibrosis (CF) is the most frequent lethal autosomal recessive disorder of Caucasian populations. The disease incidence is commonly quoted as 1 in 2500 (Boat et al., 1989), but varies widely in different populations. Frequencies as low as 1:90,000 exist (Wright and Morton, 1968), and as high as 1:377 in Brittany (Bois et al., 1978), 1:313 in the Alberta Hutterites (Fujiwara et al., 1989), and 1:569 in the Ohio Old Order Amish (Klinger 1983). There has always been some question as to whether these diverse populations represented the same mutation.