From genome to aetiology in a multifactorial disease, type 1 diabetes.
作者： John A. Todd
DOI: 10.1002/(SICI)1521-1878(199902)21:2<164::AID-BIES10>3.0.CO;2-4
关键词:
摘要: The common autoimmune disease type 1 diabetes provides a paradigm for the genetic analysis of multifactorial disease. Disease occurrence is attributable to interaction with environment alleles at many loci interspersed throughout genome. Their mapping and identification difficult because disease-associated occur almost as commonly in patients healthy individuals; even highest-risk genotypes bestow only modest risks quantitative trait (QTL) other disorders, therefore,requires very close marriage genetics biology. Two QTLs have been identified human diabetes: major histocompatibility complex HLA class II promoter polymorphism insulin gene. evidence their primary roles aetiology demonstrates necessity combined studies functions underpin an emerging picture basic causes direct analyses towards candidate genes pathways. tools used QTL include transgenesis gene knockouts, whole genome scanning linkage, mouse congenic strains, linkage disequilibrium mapping, establishment ancestral haplotypes among chromosomes. BioEssays 1999;21:164–174. © 1999 John Wiley & Sons, Inc.
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