title: Mitochondrial D-loop (CA)n repeat length heteroplasmy: frequency in a German population sample and inheritance studies in two pedigrees.
abstract: Sequence analysis of the human mitochondrial genome (mtDNA) has proven to be a valuable tool in forensic identity testing and the analysis of crime scene stains. In contrast to the very expensive sequencing technique, typing of different length variants can greatly facilitate screening of a large number of traces for their relevance during casework. Within the mitochondrial control region, a dinucleotide (CA)( n ) repeat locus is present. To assess the discrimination power of this marker, we have determined (CA)( n ) allele distribution and the frequency of heteroplasmy in a population sample of 2,458 Germans. The inclination to develop heteroplasmic mixtures (CA)( n )/(CA)( n-1) was positively correlated with the number of CA repeats in the mtDNA. In addition, we have studied the inheritance patterns of (CA)( n ) repeat sequence heteroplasmy in two pedigrees. In one pedigree, we also found a length heteroplasmy in the homopolymeric C-tract (nt 303-309). Our data show stable inheritance of heteroplasmy within the homopolymeric C-stretch, but rather unstable inheritance regarding the (CA)( n ) repeat locus.
authors.affiliation: Institut für Rechtsmedizin, Otto-von-Guericke-Universität Magdeburg, Magdeburg, Germany. reinhard.szibor@medizin.uni-magdeburg.de
authors.forename: Reinhard
authors.initials: R
authors.lastname: Szibor
authors.forename: Ines
authors.initials: I
authors.lastname: Plate
authors.forename: Marielle
authors.initials: M
authors.lastname: Heinrich
authors.forename: Mathias
authors.initials: M
authors.lastname: Michael
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Schöning
authors.forename: Holger
authors.initials: H
authors.lastname: Wittig
authors.forename: Sabine
authors.initials: S
authors.lastname: Lutz-Bonengel
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D018900:Dinucleotide Repeats; D053803:Forensic Genetics; D005828:Genetics, Population; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial