Catherine Willis
Study of the human mitochondrial DNA polymorphism.
The ancestral origin of human beings can be traced according to nucleotide sequence patterns of mitochondrial DNA (mtDNA) haplogroups. The haplogroup that a person may belong to is identified by locating particular single nucleotide polymorphisms (SNPs) that have been mapped out in the mtDNA. If a person has a certain combination of SNPs this will show that they belong to a specific haplogroup.
We are interested in finding the origins of groups of peoples and simplifying a process for screening the mtDNA haplogroups that have been used in the past to identify people's maternal origins.
Using our modified method of identifying haplogroups we analyzed the mtDNA from a group of randomly selected people to test the modified approach. Then the method was used on a blind study of people from southeastern Europe who have not been studied thoroughly. They could represent an isolated sub-population of Eastern Europe, and by closer analysis of their mtDNA it could possibly gain this population ethnic recognition as minority.
The amplification of the human mtDNA samples was done by a polymerase chain reaction (PCR) where specific segments of the mtDNA from the human samples could then further be examined by restriction fragment length polymorphism (RFLP) analysis to identify the haplogroups of the people in the sample. During the course of this project multi-plex PCR was used, which simplified the process that was used in recent studies. Another approach at simplifying the method of identifying mtDNA haplogroups was to run a PCR that contained the identifiable SNP in the PCR primer sequences. It was speculated that this would eliminate the need for RFLP analysis, because the samples that contained the SNP could be identified by looking at the PCR product on a gel electrophoresis. In the next steps of the project, the use of multi-plex PCR and gradient PCR with modified primers will be analyzed more closely to further simplify the method of screening haplogroups.
Mentor: Dr. Alex Nikitin
Page last modified July 14, 2009
