Mitochondria Lab Report

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Pages: 6

ABSTRACT
The mitochondrion is small organelle supplying the cell with the power needed for functioning of the body organs. It contains a small circular genome with high copies which makes the mitochondrial DNA more viable than nuclear DNA. Mitochondrial DNA is maternally inherited, lack recombination and have high mutation rates which make it ideal genetic marker in studying population diversity. This is done by investigating the hypervariable regions of the mitochondrial DNA through Single Nucleotide Polymorphism (SNP) typing. The differences of SNP compared to a reference sequence refer to haplotype diversity, which reflect mtDNA diversity.
INTRODUCTION
Geneticists define a population to be “a group of organisms of the same species living
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Mitochondria are double membrane, small organelle distributed abundantly in the cytoplasm of every eukaryotic cell. They are responsible for supplying the cells with energy through the process of oxidative phosphorylation (Peng et al. 2011). They contain independent genome, a small genome that differ from the nuclear DNA in size, structure, copies per cell, recombination, inheritance mode and mutation rates (Butler and Levin 1998).
Human mitochondrial DNA (mtDNA) is small double-strand circular molecule that consists of approximately 16,600 base pair (figure1) (Lembring, 2103). It contain two regions, coding and non-coding regions (Fan and Yao 2011). The coding region hold 37 genes, coding for 13 proteins needed for the oxidative phosphorylation, 22 for tRNAs and 2 rRNAs needed for protein synthesis within mitochondria (Peng et al. 2011). Each mitochondria harbor between 0-15 copies of mtDNA resulting in 100-1000 copies per cell, making any analysis of mtDNA possible from any source of cell (Ingman and Gyllensten 2001).
2.1 D-loop and
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This region contain three hypervariable segments, HV-I and HV-II (Nakamura et al. 2008). This region is highly polymorphic, having concentrated nucleotide variation due to accumulative point mutation. The reason behind polymorphism is owing to the low efficiency of DNA repair mechanism as well as to the high frequency of replication errors (Baasner et al. 1998). Most of the studies as this paper focus on the maternal side of human migration, using mtDNA sequences rather than any other markers, in particular, the focusing are on the use of SNPs in the hypervariable regions as source of variation for different purposes and