首页   按字顺浏览 期刊浏览 卷期浏览 The multifactorial/threshold concept—uses and misuses
The multifactorial/threshold concept—uses and misuses

 

作者: F. C. Fraser,  

 

期刊: Teratology  (WILEY Available online 1976)
卷期: Volume 14, issue 3  

页码: 267-280

 

ISSN:0040-3709

 

年代: 1976

 

DOI:10.1002/tera.1420140302

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

数据来源: WILEY

 

摘要:

AbstractThe common congenital malformations have familial distributions that cannot be accounted for by simple Mendelian models, but can be explained in terms of a continuous variable, “liability,” with a threshold value beyond which individuals will be affected. Both genetic and environmental factors determine liability, making the system multifactorial. Cleft palate is a useful experimental model, illustrating a number of factors that contribute to palate closure, the nature of a developmental threshold, and how genes and teratogens can alter the components of liability to increase the probability of cleft palate. The nature of the genetic component to liability in human malformations is not clear, and various possibilities, ranging from polygenic in the strict sense to a major gene with reduced penetrance are compatible with the data—but the important feature is the threshold. Much of the confusion over the concept results from inconsistent use of terminology. The term “multifactorial” should be used for “determined by a combination of genetic and environmental factors,” without reference to the nature of the genetic factor(s). “Polygenic” should be reserved for “a large number of genes, each with a small effect, acting additively.” When several genes, with more major effects are involved, “multilocal” can be used. When it is not clear which of these is applicable the term “plurilocal” is suggested, in the sense of “genetic variation more complex than a simple Mendelian difference,” Since teratological data often represent threshold characters the concept also has important implications for the interpretation of data on dose‐response curves, synergisms, and strain di

 

点击下载:  PDF (1532KB)



返 回