Mitochondrial Genetics And Forensic DNA Analysis Flashcards

0
Q

Defects

A

Can be due to autosomal, X-linked mutations or mutations in mitochondrial DNA

Higher mutation rate in mitochondrial DNA

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1
Q

Mitochondrial diseases

A

Mutations of ox/phos

Most serious in CNS and muscles

Neuropathies, encephalopathies, myopathies

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2
Q

Matrilineal inheritance

A

Mitochondria come from mom because egg is much larger than sperm and contributes both cytoplasm and nucleus to zygote

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3
Q

Homoplasmy

A

Population of mitochondria that all have the same genetic composition

If mother is homoplasmic, all children should inherit same mitochondria

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4
Q

Heteroplasmy

A

2 or more different population of mitochondria present in cell

Different in expression of same disease due to random separation of mitochondrial population to children, also need at least 85% of mutant mitochondria to express dysfunction

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5
Q

Replicative segregation

A

As cells divide, relative proportions of mutant mitochondria may change over time

Disorders often progressive with late onset because of increase over time in number of mutations per cell and number of mutant cells

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6
Q

Forensic DNA analysis

A

Sources of error include quality of specimen, statistical analysis, and interpretation (polymorphisms vary between different populations, races, ethnic groups)

Nuclear DNA analysis: has hypervariable mini satellite regions, for DNA fingerprinting, individual identification, twin studies, paternity test, criminal justice

Mitochondrial DNA analysis: link individuals by comparing maternal mitochondrial lineages, for family identity not individual

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