GENEALOGY-DNA-L Archives

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Subject: [DNA] PubMed abstract: the CA repeat in mtDNA
Date: Thu, 2 Aug 2007 08:42:12 EDT

This is the region that is reported in different formats by different
companies, but always with two bases involved in the vicinity of 520. Both insertions
(e.g. 524.1A 524.2C) and deletions (523d 524d) are common, and a person may
be "heteroplasmic" (with a mixture of length variations).

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Int J Legal Med. 2007 May;121(3):207-13. Epub 2006 Apr 28.

Mitochondrial D-loop (CA)n repeat length heteroplasmy: frequency in a German
population sample and inheritance studies in two pedigrees.

Szibor R, Plate I, Heinrich M, Michael M, Schöning R, Wittig H, Lutz-Bonengel
S.

Institut für Rechtsmedizin, Otto-von-Guericke-Universität Magdeburg,
Magdeburg, Germany.



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.

PMID: 16645851 [PubMed - indexed for MEDLINE]



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