Chapter 23: Mitochondrial DNA Profiling

Are cellular organelles that serve as the energy-generating components of cells.

The sequence was largely derived from a placental sample from an individual of European descent and also partially from HeLa cells and bovine cells.

The _______ (rCRS) was published in 1999 and presented corrections to these substitution errors.

also known as Displacement Loop; it contains the origin of replication for one of the mtDNA strands but does not code for any gene products.

is typically observed for the mtDNA genome, which is inherited differently from nuclear genes.

The inheritance of the mtDNA genome does not obey the rules of Mendelian inheritance and is thus called ______.

Considered a haplotype treated as a single locus.

The most polymorphic region of mtDNA is located within the ______.

________ occurs when an individual carries more than one mtDNA haplotype.

The presence of two different nucleotides at a single position shown as overlapping peaks in a sequence electropherogram.

Are often observed at the uninterrupted C stretches in sequencing, in which sequencing products with various lengths of polymeric cytosine residues are present.

It allows initial screening of mtDNA sequence polymorphisms and has the potential to reduce the number of samples required for mtDNA sequencing.

It utilizes reverse ASO configuration with a panel of immobilized ASO probes that detect common polymorphic sites.

An oligonucleotide primer that can anneal to a singlestranded DNA template is utilized.

It utilizes thermal cycling to generate a single-stranded template for chain-termination sequencing reactions.

Sequence differences relative to the rCRS are listed in data format.

Described by noting the position followed by a decimal point and a number.

These site designation is followed by letter d.

If the sequences of questioned and known samples are different, then the samples can be excluded as originating from the same source.

If the sequences are the same, the reference sample and evidence cannot be excluded as arising from the same source.

If the questioned and known samples differ by a single nucleotide, and no heteroplasmy is present.