Korean J Phys Anthropol.  2014 Sep;27(3):131-136. 10.11637/kjpa.2014.27.3.131.

Association between Mitochondrial D-loop Polymorphism and Copy Number

• Lee JH
• Kim DK

• KMID: 2283729
• DOI: http://doi.org/10.11637/kjpa.2014.27.3.131

Abstract

Mitochondria in cancer have genetic instability like genetic mutations or polymorphisms, and D-loop is hot spot region and is suggested its association with cancer prognosis. Genetic variations of D-loop were associated with mitochondrial copy number. In present study, mitochondrial polymorphism in D-loop (D310 and D514) was studied in 108 DNAs from health individuals and its association with mitochondrial copy number was also investigated. In D310 polymorphism, C7 was most common (37.7%, 40/108), and C8 and C9 was found in 32.1% and 30.2%, respectively. In D514 polymorphism, (CA)5 and (CA)4 was shown in 61.4% and 38.6%, respectively. Mitochondrial copy number was increased in 40.7% while it was decreased in 59.3%. There was no association between mitochondrial polymorphism and copy number. Follow-up study should be needed to confirm its change in same individuals.

Keyword

Mitochondrial polymorphism; Mitochondrial copy number; D-loop

MeSH Terms

DNA
Genetic Variation
Mitochondria
Prognosis
DNA