Skip to main content

Prevalence of mitochondrial DNA haplogroups in an Australian population

Buy Article:

$51.00 plus tax (Refund Policy)



Mitochondrial DNA (mtDNA) haplogroups are ‘neutral polymorphisms’ in the mtDNA genome, which have accumulated and persisted along maternal lineages as the human population has migrated worldwide. Three ethnically distinct lineages of human mtDNA populations have been identified: European, characterized by nine haplogroups H, I, J, K, T, U, V, W and X; African, characterized by superhaplogroup L and Asian, characterized by superhaplogroup M. We studied the prevalence of mtDNA haplogroups in participants of the Blue Mountains Eye Study, a large population-based survey of vision conducted between 1991 and 2000 of non-institutionalized permanent residents aged 49 years or older from two suburban postcode areas, west of Sydney, Australia. Total DNA isolated from either hair follicles or blood was available for 3377 of the 3509 participants (96.2%) to determine mtDNA haplogroups by polymerase chain reaction/restriction fragment length polymorphism analysis. Approximately 94.2% of samples could be assigned to one of the nine major European haplogroups, whereas a further 1.2% included the African (L) and Asian (M) superhaplogroups. The five principal haplogroups represented were H (42.9%), U (14.1%), J (10.7%), T (9.2%) and K (8.1%), which together included 85% of this population.

Keywords: Blue Mountains Eye Study; haplogroup; mtDNA; prevalence

Document Type: Research Article


Affiliations: 1: Kolling Institute, Department of Neurogenetics 2: Centre for Vision Research, Department of Ophthalmology, the Save Sight and Westmead Millennium Institutes, University of Sydney, Sydney, New South Wales, Australia

Publication date: August 1, 2006


Access Key

Free Content
Free content
New Content
New content
Open Access Content
Open access content
Subscribed Content
Subscribed content
Free Trial Content
Free trial content
Cookie Policy
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more