A genetic study of fibrocystic disease of the pancreas

Familial occurrence of meconium ileus

“…They do not allow any distinction between the two possible forms of genetic heterogeneity. Other studies conducted here in the past have provided some evidence against the involvement of multiple gene loci in the aetiology of cystic fibrosis (Danks et al 1965). Reanalysis of the larger number of families now available is in progress.…”

“…The figures quoted from these centres were quite large but insufficient information was provided to allow statistical analysis of the data. While the present study also comes from a major referral centre, other studies have demonstrated that the whole spectrum of cystic fibrosis is seen here and that ascertainment of cases within the defined population is likely to be close to 100% (Danks et al 1965;Allan et al 1980).…”

“…A prospective study on the incidence and natural~ history of cystic fibrosis has been in progress for the whole of this periods: one of us (JLA) has had continuing contact with almost all families for periods of up to 27 years and there is good reason to believe that ascertainment is close to complete (Danks et al 1965;Allan et al 1980 …”

The Detection of Genetical Influences on Human Family Size

“…First, an excess of large sibships with one affected offspring of high parity might be obtained. There is no evidence of this in the data of Danks et al [1965]. Secondly, extremely rare recessive defects, those where mutation-selection balance is possible with reasonable mutation rates (10~5 per generation or less), are unlikely to be maintained by excess fertility of heterozygotes.…”

Studies in Meconium in Cystic Fibrosis: the Activities of alpha-<i>D</i>-Mannosidase, beta-Glucuronidase, beta-<i>D</i>-Fucosidase Acid and Alkaline Phosphatase

“…Although CF is inherited in an autosomal recessive fashion (2,11,12,36) the primary abnormality is presently unknown. In con sidering the concept of a molecular defect we studied the intracellular lysosomal enzyme ac tivities.…”