Analysis of 11 SNPs of human mtDNA in individuals from the North of Portugal: A preliminary study

Abstract

Human mitochondrial DNA (mtDNA) has specific features that make its analysis very useful in forensic casework and human population studies. However, the principal limitation associated with mtDNA typing is the low power of discrimination particularly when common mitochondrial types are present in two unrelated samples. The analysis of the hypervariable segments I and II (HVI and HVII) represents only a small portion of the genetic information contained in the mtDNA molecule. The direct sequencing is a time-consuming and labour-intensive method. In this sense, the sequencing of the entire mitochondrial genome is not a practical method. The typing of single nucleotide polymorphisms (SNPs) located throughout the mitochondrial genome can increase the informative and discrimination powers of the human mtDNA analysis. Also, it can provide important information on the mitochondrial haplogroup affiliation. A set of 11 mtDNA SNPs was chosen for starting the study of mitochondrial SNPs in our laboratory. The analysis was done using a multiplex PCR followed by minisequencing.