Prevalence of mitochondrial DNA haplogroups in an Australian population.

Abstract:

: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.

journal_name

Intern Med J

authors

Manwaring N,Jones MM,Wang JJ,Rochtchina E,Mitchell P,Sue CM

doi

10.1111/j.1445-5994.2006.01118.x

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

530-3

issue

8

eissn

1444-0903

issn

1445-5994

pii

IMJ1118

journal_volume

36

pub_type

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