Beyond Mendel: an evolving view of human genetic disease transmission.
摘要：
Methodological and conceptual advances in human genetics have led to the identification of an impressive number of human disease genes. This wealth of information has also revealed that the traditional distinction between Mendelian and complex disorders might sometimes be blurred. Genetic and mutational data on an increasing number of disorders have illustrated how phenotypic effects can result from the combined action of alleles in many genes. In this review, we discuss how an improved understanding of the genetic basis of multilocus inheritance is catalysing the transition from a segmented view of human genetic disease to a conceptual continuum between Mendelian and complex traits.
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关键词：
Animals Humans Disease Models, Animal Genetic Diseases, Inborn Pedigree Genotype Inheritance Patterns Multifactorial Inheritance Phenotype Alleles
DOI：
10.1038/nrg910
被引量：
年份：
2002
Springer
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