A rapid mtDNA assay of 22 SNPs in one multiplex reaction increases the power of forensic testing in European Caucasians.

International Journal of Legal Medicine
Stephan KöhnemannCarsten Hohoff

Abstract

We have developed a multiplex mitochondrial (mtDNA) assay of 21 coding region single nucleotide polymorphisms (SNPs) and one control region SNP outside hypervariable region 1 (HVR1) and hypervariable region 2 (HVR2) that can be amplified in a single reverse touchdown polymerase chain reaction. Single base extension using the SNaPshot technique is also carried out as one multiplex. Besides the nine major European haplogroups (i.e. H, I, J, K, T, U, V, W, and X), 16 additional subclades (i.e. N1, X2, X2b, U2'-4/7'-9', J/T, J1, J1c, HV, H1, H1a1, H1c, H3, H4, H6a, H7a H10) can be detected and classified into a phylogenetic mtDNA tree. By analyzing 130 Caucasoid samples from Germany, 36 different haplotypes were found resulting in a power of discrimination of 93.2%. Although 49% of all samples belonged to superhaplogroup H, the most common haplotype, i.e., haplogroup-specific SNPs plus haplogroup unspecific SNPs, had a frequency of only 18%. This assay is applicable for high-throughput mtDNA analysis and forensic mass screening. It will give additional information to the common control region sequencing of HVR1 and HVR2.

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Citations

May 12, 2009·International Journal of Legal Medicine·S CarattiC Robino
Nov 19, 2009·International Journal of Legal Medicine·Jae-Jung KimJong-Keuk Lee
May 26, 2010·International Journal of Legal Medicine·Stephan KöhnemannHeidi Pfeiffer
Jun 18, 2010·Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban·Daixin HuangKun Mei
May 19, 2012·Investigative Genetics·Stephanie M RogersJacqueline Fletcher
May 19, 2010·International Journal of Legal Medicine·Leire PalenciaMarian M de Pancorbo
Aug 21, 2009·International Journal of Legal Medicine·A OdriozolaMarian M De Pancorbo
Mar 21, 2013·Forensic Science International. Genetics·Gustavo ChemalePaulo Roberto Fagundes
Sep 24, 2011·Forensic Science International. Genetics·Kaye N BallantyneManfred Kayser
May 12, 2010·Forensic Science International. Genetics·Stephan Köhnemann, Heidi Pfeiffer
Dec 2, 2009·Forensic Science International. Genetics·Kaarel KrjutskovAndres Metspalu
Aug 27, 2016·Mitochondrion·Christine Sabine SiegismundDirk Lassner
Nov 15, 2016·International Journal of Legal Medicine·Bhavik MehtaDennis McNevin

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