Mendelian Inheritance Flashcards Preview

Fundamentals of Molecular Medicine > Mendelian Inheritance > Flashcards

Flashcards in Mendelian Inheritance Deck (29):
1

 

 

 

Pedigree

A image thumb
2

 

 

 

Proband

A image thumb
3

Q image thumb

A image thumb
4

Q image thumb

A image thumb
5

Q image thumb

A image thumb
6

Q image thumb

A image thumb
7

Q image thumb

A image thumb
8

 

 

 

Key Types of Mendelian Inheritence

A image thumb
9

 

 

 

Y-Linked Traits

 

 

 

 

A image thumb
10

 

 

 

Autosomal Recessive

A image thumb
11

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. 

12

 

 

 

Autosomal Dominant

A image thumb
13

 

 

 

X-Linked Recessive

A image thumb
14

 

 

 

X-Linked Dominant

A image thumb
15

 

 

 

Penetrance

 

 

 

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

A image thumb
16

 

 

 

Expressivitiy

 

 

 

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

A image thumb
17

 

 

 

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. 

19

 

 

 

Sleeper

 

 

 

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

20

 

 

 

Non-Traditional Modes of Inheritence

A image thumb
21

 

 

 

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 

A image thumb
22

 

 

 

Genetic Anticipation 

A image thumb
23

 

 

 

Amniocentesis 

A image thumb
24

 

 

 

Chorionic Villus Sampling

A image thumb
25

 

 

 

NIPT

A image thumb
26

 

 

 

Frequency of Downsyndrome and Maternal Age

A image thumb
27

 

 

 

Examples of Genetic Disease and Prenatal Testing

A image thumb
28

 

 

 

Summary of Key Points

A image thumb
29

 

 

 

Compare and Contrast Key Mendelian Inheritence Patterns

A image thumb

Decks in Fundamentals of Molecular Medicine Class (77):