INCIDENCE IN ITALY, GENETIC-HETEROGENEITY, AND SEGREGATION ANALYSIS OF CYSTIC-FIBROSIS
- 1 January 1985
- journal article
- research article
- Vol. 37 (2) , 338-349
Abstract
Taking advantage of the availability of an archive of consanguineous marriages that gives accurate estimates of consanguinity in Italy, it was possible to calculate the increase of 1st- and 2nd-cousin marriages among 624 couples of cystic fibrosis (CF) parents over the general population. From these estimates, the incidence of CF in Italy was found to correspond approximately to 1/2000. The same data were used to test the hypothesis of genetic heterogeneity of CF, recently proposed, which is based on the presence of 2 distinct genetic disorders having similar frequencies. If such a hypothesis were true, the number of 1st-cousin marriages among CF parents should be significantly higher than that observed in the present study. The segregation analysis of 624 CF sibships has yielded under multiple selection a segregation ratio of 0.252, confirming the recessive mode of inheritance.This publication has 6 references indexed in Scilit:
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