Prevalence of mitochondrial DNA haplogroups in an Australian population

Internal Medicine Journal

Volumn 36, Issue 8, 2006, Pages 530-533

  Manwaring, N ^a   Jones, M M ^a   Wang, J J ^b   Rochtchina, E ^b   Mitchell, P ^b   Sue, C M ^a,c  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ROYAL NORTH SHORE HOSPITAL   (Australia)

Author keywords

Blue Mountains Eye Study; Haplogroup; mtDNA; Prevalence

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AFRICA; AGED; ARTICLE; ASIAN; DNA ISOLATION; DNA POLYMORPHISM; ETHNIC GROUP; EUROPE; FEMALE; HAIR FOLLICLE; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

CONTINENTAL POPULATION GROUPS; DNA, MITOCHONDRIAL; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; NEW SOUTH WALES; POLYMORPHISM, GENETIC; PREVALENCE;

EID: 33745601940     PISSN: 14440903     EISSN: 14455994     Source Type: Journal    
DOI: 10.1111/j.1445-5994.2006.01118.x     Document Type: Article

References (17)

1. Howell N, Elson L, Chinnery P, Turnbull D. mtDNA mutations and common neurodegenerative disorders. Trends Genet 2005; 21: 583-6.
2. Sadun F, De Negri AM, Carelli V, Salomao SR, Berezovsky A, Andrade R et al. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy [Published erratum appears in Am J Ophthalmol 2004; 137: following 793]. Am J Ophthalmol 2004; 137: 271-7.
3. van der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC et al. Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 2004; 365: 28-32.
4. van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL et al. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 2003; 72: 804-11.
5. Ross OA, McCormack R, Maxwell LD, Duguid RA, Quinn DJ, Barnett YA et al. mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp Gerontol 2003; 38: 397-405.
6. Ruiz-Pesini E, Lapena A, Diez-Sanchez C, Perez-Martos A, Montoya J, Alvarez E et al. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 2000; 67: 543-8.
7. Majamaa K, Finnila S, Turkka J, Hassinen IE. Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine. Lancet 1998; 352: 455-6.
8. Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A et al. Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 1997; 6: 1835-46.
9. Kalman B, Li S, Chatterjee D, O'Connor J, Voehl MR, Brown MD et al. Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians. Acta Neurol Scand 1999; 99: 16-25.
10. Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD. Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. Mol Cell Biochem 1997; 174: 209-13.
11. Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW et al. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies. Neurology 2000; 55: 302-04.
12. Torroni A, Campos Y, Rengo C, Sellitto D, Achilli A, Magri C et al. Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. Am J Hum Genet 2003; 72: 1005-12.
13. Sue CM, Crimmins D, Quigley A, Katsabanis S, Kapsa R, Byrne E et al. Detection of MELAS point mutation 3243 in muscle, blood and hair follicles. J Neural Sci 1998; 161: 36-9.
14. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R et al. Classification of European mtDNAs from an analysis of three European populations. Genetics 1996; 144: 1835-50.
15. Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 1994; 55: 760-76.
16. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C et al. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups [see comment]. [Published erratum appears in Am J Hum Genet 2002; 71: 448-9]. Am J Hum Genet 2002; 70: 1152-71.
17. Chen YS, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC. Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 1995; 57: 133-49.