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Detection and Quantification of the Age‐Related Point Mutation A189G in the Human Mitochondrial DNA
Author(s) -
Thèves Catherine,
KeyserTracqui Christine,
Crubézy Eric,
Salles JeanPierre,
Ludes Bertrand,
Telmon Norbert
Publication year - 2006
Publication title -
journal of forensic sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.715
H-Index - 96
eISSN - 1556-4029
pISSN - 0022-1198
DOI - 10.1111/j.1556-4029.2006.00163.x
Subject(s) - heteroplasmy , mitochondrial dna , point mutation , mtdna control region , biology , genetics , mutation , microbiology and biotechnology , human mitochondrial genetics , dna , gene , genotype , haplotype
Mutation analysis in the mitochondrial DNA (mtDNA) control region is widely used in population genetic studies as well as in forensic medicine. Among the difficulties linked to the mtDNA analysis, one can find the detection of heteroplasmy, which can be inherited or somatic. Recently, age‐related point mutation A189G was described in mtDNA and shown to accumulate with age in muscles. We carried out the detection of this 189 heteroplasmic point mutation using three technologies: automated DNA sequencing, Southern blot hybridization using a digoxigenin‐labeled oligonucleotide probe, and peptide nucleic acid (PNA)/real‐time PCR combined method on different biological samples. Our results give additional information on the increase in mutation frequency with age in muscle tissue and revealed that the PNA/real‐time PCR is a largely more sensitive method than DNA sequencing for heteroplasmy detection. These investigations could be of interest in the detection and interpretation of mtDNA heteroplasmy in anthropological and forensic studies.