Use of isolated populations in disease gene identification

Bibliographic Details
Main Author: Peltonen, Leena
Format: eBook
Language:English
Published: London Henry Stewart Talks 2007, 2007
Series:Genetic epidemiology II : latest developments
Subjects:
Online Access:
Collection: Henry Stewart Talks - Collection details see MPG.ReNa
Table of Contents:
  • Disease mutations in Finland - Molecular background of Finnish disease heritage - Finnish disease genes, novel pathways exposed - Example: APECED - AIRE protein - AIRE regulates ectopic expression in thymus - AIRE deficiency - Simplifying the complex genetic background of common diseases - Advantages of isolated populations - Internal isolates: increased genetic homogeneity - Lactose intolerance - Adult type hypolactasia - Severe coronary heart disease - Familial combined hyperlipidemia, FCHL - USF1: a transcription factor - Effect of genetic association on target cells, coronary wall and impact in population - Population based cohorts in Finland - Global effort is needed