Mitochondrial DNA

Question 1

Forensic uses of mtDNA

Answer 1

missing persons/mass disaster

degraded/low copy number DNA

Question 2

mtDNA structure

Answer 2

small, circular, haploid genome
4-5 copy/mitochondrion
2 complimentary strands (one heavy [more G] other light)
mostly coding DNA

Question 3

Non-coding regions

Answer 3

<7%

contains hypervariable regions (part that is sequenced and compared)

Question 4

Pre-sequecing screening

Answer 4

look for specific variants by mini sequencing, sequence specific probes, restriction enzymes

Question 5

Nomenclature 1 bp change

Answer 5

sequence change defined by location and base

Question 6

Nomenclature insertion

Answer 6

location just before insertion plus a decimal point, the position added, and the base added

Question 7

Nomenclature deletion

Answer 7

location missing followed by -, D, d, or del

Question 8

Challenges

Answer 8

extraction (small or degraded- bone, hair teeth)
contamination
heteroplasmy
C-streches (increase chance length heteroplasmy)
nuclear pseudogenes
paternal leakage
mixed DNA samples

Question 9

Heteroplasmy

Answer 9

presence of more than one mtDNA type in an individual
looks like a heterozygote
can vary among tissue