Chapter 23: Mitochondrial DNA Profiling

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Mitochondria

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21 Terms

1

Mitochondria

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

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2

Cambridge reference sequence (CRS)

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

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3

revised Cambridge reference sequence

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

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4

Control Region

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.

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5

Maternal inheritance

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

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6

non-Mendelian inheritance

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

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7

Mitotype

Considered a haplotype treated as a single locus.

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8

D-loop

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

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9

Heteroplasmy

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

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10

Sequence heteroplasmy

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

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11

Light heteroplasmy

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

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12

ASO Assay

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

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13

Linear Array™ mtDNA HV1/HV2 region sequence typing kit

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

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14

Chain-Termination or Sanger Method

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

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15

Cycle Sequencing

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

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16

Reporting Format

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

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17

Insertions

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

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18

Deletions

These site designation is followed by letter d.

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19

Exclusion

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

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20

Cannot Exclude

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

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21

Inconclusive Result

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

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