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.
Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis / G., Romeo; M., Bianco; M., Devoto; P., Menozzi; G., Mastella; A. M., Giunta; C., Micalizzi; M., Antonelli; A., Battistini; Santamaria, Francesca. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - STAMPA. - 37:(1985), pp. 338-349.
Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis.
SANTAMARIA, FRANCESCA
1985
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
