We evaluated, by deterministic computer simulation, some effects of a screening programme for carriers of cystic fibrosis mutations. Two different selective regimes (heterozygote advantage and directional selection against recessive homozygotes) and three kinds of response to the screening were simulated. The curves describing the expected decline in the frequency of CF homozygotes allow one to predict some benefits of a screening campaign. In addition, it is shown that a strategy aimed at testing couples, rather than individuals, may become less expensive after only two generations of screening. The main source of uncertainty for a screening programme remains the selection mechanism, namely the existence of some sort of biological advantage for heterozy,gous carriers of CF mutations.

Expected effects of mass screening policies on the frequency of cystic fibrosis homozygotes

BERTORELLE, Giorgio;BARBUJANI, Guido
1997

Abstract

We evaluated, by deterministic computer simulation, some effects of a screening programme for carriers of cystic fibrosis mutations. Two different selective regimes (heterozygote advantage and directional selection against recessive homozygotes) and three kinds of response to the screening were simulated. The curves describing the expected decline in the frequency of CF homozygotes allow one to predict some benefits of a screening campaign. In addition, it is shown that a strategy aimed at testing couples, rather than individuals, may become less expensive after only two generations of screening. The main source of uncertainty for a screening programme remains the selection mechanism, namely the existence of some sort of biological advantage for heterozy,gous carriers of CF mutations.
1997
Bertorelle, Giorgio; Barbujani, Guido
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/518616
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact