Mendelian Inheritance

Question 1

Pedigree

Answer 1

Question 2

Proband

Answer 2

Question 3

Answer 3

Question 4

Answer 4

Question 5

Answer 5

Question 6

Answer 6

Question 7

Answer 7

Question 8

Key Types of Mendelian Inheritence

Answer 8

Question 9

Y-Linked Traits

Answer 9

Question 10

Autosomal Recessive

Answer 10

Question 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

Answer 11

50%?

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

Question 12

Autosomal Dominant

Answer 12

Question 13

X-Linked Recessive

Answer 13

Question 14

X-Linked Dominant

Answer 14

Question 15

Penetrance

Answer 15

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

Question 16

Expressivitiy

Answer 16

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

Question 17

Huntington’s disease

Answer 17

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

Question 18

Retinoblastoma

Answer 18

Retinoblastoma — has variable penetrance.

Question 19

Sleeper

Answer 19

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

Question 20

Non-Traditional Modes of Inheritence

Answer 20

Question 21

Mitochondrial Maternal Effect

Answer 21

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

Question 22

Genetic Anticipation

Answer 22

Question 23

Amniocentesis

Answer 23

Question 24

Chorionic Villus Sampling

Answer 24

Question 25

NIPT

Answer 25

Question 26

Frequency of Downsyndrome and Maternal Age

Answer 26

Question 27

Examples of Genetic Disease and Prenatal Testing

Answer 27

Question 28

Summary of Key Points

Answer 28

Question 29

Compare and Contrast Key Mendelian Inheritence Patterns

Answer 29