1
Q
pattern of mitochondrial inheritance
A
inherited maternally
2
Q
why is the phenotype varies and effect on genetic counselling
A
heteroplasmy: multiple mitochondrial DNA genomes within each cell, affecting severity (and creating new strains), making genetic counselling difficult
3
Q
MELAS
A
progressive to fatal; single point mutation in several genes; characterised by dementia and myopathy
4
Q
LHON
A
deletion in NADH dehydrogenase; eventually causing blindness
5
Q
preventing mitochondrial disorders
A
prevented with 3 parent babies: oocyte donor, female nucleus, sperm
MCD Genetics
flashcards
Decks in class (24)
# Cards
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complex genetic diseases5
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complex genetic diseases14
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chromosomes, chromosome abnormalities and birth defects2
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chromosomes, chromosome abnormalities and birth defects7
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chromosome, chromosome abnormalities and birth defects2
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chromosome, chromosome abnormalities and birth defects4
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chromosome, chromosome abnormalities and birth defects1
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chromosome, chromosome abnormalities and birth defects3
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prenatal diagnosis of genetic diseases6
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prenatal diagnosis of genetic diseases12
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prenatal diagnosis of genetic diseases5
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cancer as a genetic disease7
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cancer as a genetic disease7
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cancer as a genetic disease10
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monogenic diseases8
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monogenic diseases9
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monogenic diseases1
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monogenic diseases4
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monogenic diseases12
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monogenic diseases5
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monogenic diseases2
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DNA sequencing and personalised medicine3
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DNA sequencing and personalised medicine3
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DNA sequencing and personalised medicine5
