Description
A mitochondrial dna snp multiplex pcr assay assigning caucasians into 41 haplo- and subhaplogroupsMartin Mikkelsen, Eszter Rockenbauer, Erik Sørensen, Claus Børsting and Niels Morling
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Denmark
We present a SNP multiplex PCR typing assay with 33 previously described mtDNA coding region SNPs for the assignment of mitochondrial haplogroups in Caucasians. The assay makes it possible to assign Caucasians into 14 major haplogroups and 27 of the most frequent Caucasian sub-haplogroups. The assay consists of a 27-SNP multiplex PCR reaction followed by two Single Base Extension reactions performed with the SNaPShot® kit, capillary electrophoresis and multicolour fluorescence detection. The assay has so far been tested on 165 unrelated Caucasians. It was possible to establish a full profile of all 33 SNPs in 99% of the samples. However, 13% of the samples could not be assigned to a specific haplogroup using the particular SNPs. The SNP based haplogroup assignments were compared to those obtained by sequencing of the HV1 and HV2 regions, and 25% of the individuals were assigned to the same haplo- or sub-haplogroup as those assigned with sequencing. Furthermore, 67% were assigned to groups within the same branches of the phylogentic tree. In 8% of the individuals the assignment according to the phylogenetic tree differed between SNP typing and HV1 and HV2 typing indication that further studies are needed. These include typing of an additional 50 samples for the comparison of haplogroup assignment and application of the assay to forensic genetic cases.
| Period | 28 May 2008 |
|---|---|
| Event title | DNA in Forensic 2008 |
| Event type | Conference |
| Location | Ancona, Italy |