Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis

• Published in: American journal of human genetics Vol. 37; no. 2; pp. 338 - 349
• Main Authors: ROMEO, G, BIANCO, M, CASTELLO, D, MARIANELLI, A, MARCHI, A. G, MANCA, A, MIANO, A, DEVOTO, M, MENOZZI, P, MASTELLA, G, GIUNTA, A. M, MICALIZZI, C, ANTONELLI, M, BATTISTINI, A, SANTAMARIA, F
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 01.03.1985
• Subjects: Biological and medical sciences; Consanguinity; Cystic Fibrosis - epidemiology; Cystic Fibrosis - genetics; Female; Gastroenterology. Liver. Pancreas. Abdomen; Genetic Variation; Humans; Italy; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Medical sciences; Models, Genetic; Original; Other diseases. Semiology; Seasons; Italy; Human; Heterogeneity; Mucoviscidosis; Respiratory disease; Europe; Inheritance; Digestive diseases; Italy; Child; Epidemiology; Pancreatic disease
• ISSN: 0002-9297; 1537-6605

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.