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

International Journal of Legal Medicine
Reinhard SziborSabine Lutz-Bonengel

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.

References

May 1, 1992·Human Molecular Genetics·A BodenteichC R Merril
Jan 1, 1992·International Journal of Legal Medicine·K M SullivanP Gill
Jan 1, 1991·Electrophoresis·K M SullivanP Gill
Apr 9, 1981·Nature·S AndersonI G Young
Feb 1, 1994·Nature Genetics·P GillK Sullivan
Jan 1, 1996·International Journal of Legal Medicine·S LutzS Pollak
Dec 18, 1997·American Journal of Human Genetics·K E BendallB C Sykes
Apr 1, 1998·Human Genetics·C D GockeP K Rogan
Jun 19, 1998·American Journal of Human Genetics·B BrinkmannB Rolf
May 21, 1999·International Journal of Legal Medicine·J HühneK Brinkmann
Jul 6, 2000·International Journal of Legal Medicine·S LutzS Pollak
Sep 9, 2000·Forensic Science International : Synergy·R SziborD Krause
May 18, 2001·International Journal of Legal Medicine·F CaliV Romano
Sep 17, 2002·Forensic Science International : Synergy·Mark R WilsonBruce Budowle
Apr 23, 2004·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Peter Forster
Sep 21, 2004·International Journal of Legal Medicine·Ukhee ChungKyoung-Jin Shin
Apr 4, 2006·International Journal of Legal Medicine·Reinhard SziborDieter Krause

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Citations

Aug 19, 2008·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Chuanzhong YeQiuyin Cai
Mar 30, 2010·Journal of Forensic Sciences·Greiciane G PanetoRegina M B Cicarelli
Nov 30, 2019·Forensic Science International. Genetics·Kimberly Sturk-AndreaggiCharla Marshall

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