Genetic analysis of human evolutionary history with implications for gene mapping

Thesis



Genetic variation contains detailed and quantitative evidence about the history of populations. The historical traces of demographic growth and contraction, as well as the history of human disease, have left traces on the patterns of modern variation and can be studied by sampling present-day populations. However, the data sets that are necessary in order to take full advantage of this living archaeological record have not been available until recently. The quality and quantity of data have increased dramatically during the past decade because of the identification of polymorphisms, including SNPs and microsatellites, that are much more amenable to mathematical modeling and efficient genotyping than earlier marker systems. The research in this thesis has been carried out in response to the need to provide new methods of analysis to match the new types of data. Chapter 1 describes multilocus tests of demographic history and their application to real data. Chapter 2 describes how the pattern of linkage disequilibrium around a disease-predisposing mutation can be used to estimate the date of a mutation that is, the age of the most recent common ancestor of a set of modern samples. Finally, Chapter 3 draws several direct connections between human evolutionary history and medical genetics.

Authors: Reich, D; Reich, David Emile

• Publication date: 1999
• Type of award: DPhil
• Level of award: Doctoral
• Awarding institution: University of Oxford
• Language: English
• Subjects: Human evolution; Human population genetics; Mathematics