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The remarkable phenotypic diversity of the beta-thalassaemias reflects the heterogeneity of mutations at the beta-globin locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors. It is likely that phenotype-genotype relationships will be equally complex in the case of many monogenic diseases. These findings highlight the problems that might be encountered in defining the relationship between the genome and the environment in multifactorial disorders, in which the degree of heritability might be relatively low and several environmental agents are involved. They also emphasize the value of an understanding of phenotype-genotype relationships in designing approaches to gene therapy.

Original publication

DOI

10.1038/35066048

Type

Journal article

Journal

Nat Rev Genet

Publication Date

04/2001

Volume

2

Pages

245 - 255

Keywords

Alleles, Bilirubin, Bone Diseases, Environment, Genes, Dominant, Genes, Recessive, Genetic Variation, Genotype, Hemoglobins, Humans, Iron, Multigene Family, Mutation, Phenotype, Thalassemia