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Flashcards in Genetics 1 Deck (5)
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1

Inheritance of mitochondrial disease

Passed on from mothers as sperm does not contribute cytoplasm
All children of affected females will inherit disease. No children of affected males will inherit disease

2

What type of diseases are mitochondrial diseases usually

Usually rare neurological diseases

3

Pattern of inheritance of mitochondrial diseases

Poor genotype to phenotype correlation - within a tissue or a cell there can be different mitochondrial populations - known as heteroplasmy

4

What is usually seen in muscle biopsy histology for mitochondrial diseases

Red ragged fibres - due to increased number of mitochondria

5

Features of x-linked recessive disease inheritance

Cannot get male to male transmission.
Only males can be affected - or females with turners syndrome XO
Children of female carriers (male and female) have 50% chance of being affected.
Children of affected males are either unaffected sons or carrier daughters.