Mendelian Inheritance Flashcards Preview

Fundamentals of Molecular Medicine > Mendelian Inheritance > Flashcards

Flashcards in Mendelian Inheritance Deck (29):
1

 

 

 

Pedigree

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Proband

3

4

5

6

7

8

 

 

 

Key Types of Mendelian Inheritence

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Y-Linked Traits

 

 

 

 

10

 

 

 

Autosomal Recessive

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The risk of a child being born with an autosomal dominant disorder to parents one of whom has the disorder is:

10%

25%

50%

75%

Cannot be determined

 

 

 

50%?

Don't Set too much store on this you weren't paying attention. 

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Autosomal Dominant

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X-Linked Recessive

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X-Linked Dominant

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Penetrance

 

 

 

Genetic testing helps determine if the patient didn’t inherit that allele or if it is non-penetrant. 

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Expressivitiy

 

 

 

Expressivisity — Not black and white (Unlike Penetrance) differing severities. 

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Huntington’s disease

 

 

Huntington’s disease — not everyone who has a mutation for Huntington’s disease but they won’t have it. Penetrance is 90% 

18

 

 

 

Retinoblastoma

 

 

 

Retinoblastoma — has variable penetrance. 

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Sleeper

 

 

 

Sleeper — Someone who has the mutation but doesn’t show it. 

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Non-Traditional Modes of Inheritence

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Mitochondrial Maternal Effect

Nervous system and muscular system are the most effected with mitochondrial diseases. 

When cytokinesis occurs the mitochondria randomly split and can be split into any proportion and statistically it’s 50-50 but it can be anything. 

Red Mitochondria produce energy. Blue don’t produce energy. 

Heteroplasmy— Heteroplasmy is the presence of more than one type of organellar genome (mitochondrial DNA or plastid DNA) within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases.

Mitochondrial Diseases have a kind of moacism 

22

 

 

 

Genetic Anticipation 

23

 

 

 

Amniocentesis 

24

 

 

 

Chorionic Villus Sampling

25

 

 

 

NIPT

26

 

 

 

Frequency of Downsyndrome and Maternal Age

27

 

 

 

Examples of Genetic Disease and Prenatal Testing

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Summary of Key Points

29

 

 

 

Compare and Contrast Key Mendelian Inheritence Patterns

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