Multiple mitochondrial DNA deletions in an elderly human individual

FEBS Letters

Baumer, Alessandra¹  Nagley, Phillip¹  Maxwell, Ronald J.¹  Zhang, Chunfang¹  Linnane, Anthony W.¹ 

[1] Department of Biochemistry and Centre for Molecular Biology and Medicine, Monash University, Clayton, Victoria 3168, Australia

关键词: Somatic gene mutation;    DNA deletion;    Mitochondrial DNA;    Ageing;    Polymerase chain reaction;    Human;    PCR;    polymerase chain reaction;    mtDNA;    mitochondrial DNA;    bp;    base pairs;    kb;    kilobase pairs;   

DOI  :  10.1016/0014-5793(92)80321-7

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

We have used the polymerase chain reaction (PCR) to study deletions in the mitochondrial DNA (mtDNA) of an elderly human individual. An extended set of PCR primers has been utilised to identify 10 mitochondrial DNA deletions in a 69-year-old female subject with no known mitochondrial disease. The particular deletions visualised as PCR products depended on the primer pairs used, such that the more distantly separated PCR primers enabled visualisation of larger deletions. Some deletions were common to the heart, brain and skeletal muscle, whereas others were apparently specific to individual tissues. DNA sequencing analysis of PCR products showed that short direct repeat sequences (5 to 13 bp) flanked all deletion breakpoints; in most cases one copy of the repeat was deleted. It is proposed that the accumulation of such multiple deletions is a general phenomenon during the ageing process.

【 授权许可】

Unknown