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European Caucasian / Haplogroup / mtDNA / Multiplex primer extension
Abstract:
The evolution of the human mitochondrial genome is reflected in the existence of eth-
nically distinct lineages or haplogroups. Alterations of mitochondrial DNA (mtDNA)
have been instrumental in studies of human phylogeny, in population genetics, and in
molecular medicine to link pathological mutations to a variety of human diseases of
complex etiology. For each of these applications, rapid and cost effective assays for
mtDNA haplogrouping are invaluable. Here we describe a hierarchical system for
mtDNA haplogrouping that combines multiplex PCR amplifications, multiplex single-
base primer extensions, and CE for analyzing ten haplogroup-diagnostic mitochondrial
single nucleotide polymorphisms. Using this rapid and cost-effective mtDNA geno-
typing method, we were able to show that within a large, randomly selected cohort of
healthy Austrians (
n
= 1172), mtDNAs could be assigned to all nine major European
haplogroups. Forty-four percent belonged to haplogroup H, the most frequent hap-
logroup in European Caucasian populations. The other major haplogroups identified
were U (15.4%), J (11.8%), T (8.2%) and K (5.1%). The frequencies of haplogroups in
Austria is within the range observed for other European countries. Our method may be
suitable for mitochondrial genotyping of samples from large-scale epidemiology stud-
ies and for identifying markers of genetic susceptibility.
