Abstract
Taking advantage of the availability of an archive of consanguineous marriages that gives accurate estimates of consanguinity in Italy, it has been possible to calculate the increase of first- and second-cousin marriages among 624 couples of cystic fibrosis (CF) parents over the general population. From these estimates, the incidence of CF in Italy has been found to correspond approximately to 1/2,000. In turn, the same data have been used to test the hypothesis of genetic heterogeneity of CF, recently proposed, which is based on the presence of two distinct genetic disorders having similar frequencies. If such a hypothesis were true, the number of first-cousin marriages among CF parents should be significantly higher than that observed in our present study. Finally, the segregation analysis of 624 CF sibships has yielded under multiple selection a segregation ratio of 0.252, confirming the recessive mode of inheritance.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BARRAI I., MI M. P., MORTON N. E., YASUDA N. ESTIMATION OF PREVALENCE UNDER INCOMPLETE SELECTION. Am J Hum Genet. 1965 May;17:221–236. [PMC free article] [PubMed] [Google Scholar]
- Danks D. M., Allan J., Phelan P. D., Chapman C. Mutations at more than one locus may be involved in cystic fibrosis--evidence based on first-cousin data and direct counting of cases. Am J Hum Genet. 1983 Sep;35(5):838–844. [PMC free article] [PubMed] [Google Scholar] [Retracted]
- Danks D. M., Phelan P. D., Chapman C. Retraction: No evidence for more than one locus in cystic fibrosis . Am J Hum Genet. 1984 Nov;36(6):1401–1402. [PMC free article] [PubMed] [Google Scholar]
- GIBSON L. E., COOKE R. E. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959 Mar;23(3):545–549. [PubMed] [Google Scholar]
- Romeo G., Menozzi P., Ferlini A., Fadda S., Di Donato S., Uziel G., Lucci B., Capodaglio L., Filla A., Campanella G. Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am J Hum Genet. 1983 May;35(3):523–529. [PMC free article] [PubMed] [Google Scholar]
- Romeo G., Menozzi P., Ferlini A., Prosperi L., Cerone R., Scalisi S., Romano C., Antonozzi I., Riva E., Piceni Sereni L. Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening. Clin Genet. 1983 Nov;24(5):339–345. [PubMed] [Google Scholar]
- Ten Kate L. P. Cystic fibrosis in the Netherlands. Int J Epidemiol. 1977 Mar;6(1):23–34. doi: 10.1093/ije/6.1.23. [DOI] [PubMed] [Google Scholar]