Genetics

Question 1

What is the inheritance pattern of sickle cell and what chromosome is it on?

Answer 1

Autosomal recessive

Chromosome 11

Question 2

What is the inheritance pattern of Huntingdons and what chromosome is it on?

Answer 2

Autosomal dominant

Chromosome 4

Question 3

What is the inheritance pattern of fragile X?

Answer 3

Sex linked dominant but doesnt show in females

Question 4

What is the inheritance pattern of haemophilia?

Answer 4

X linked recessive

Question 5

What is the location and inheritance pattern of CF?

Answer 5

7

Autosomal recessive

Question 6

What is the inheritance pattern for DMD?

Answer 6

X linked recessive

Question 7

What is Tay sachs, who gets it and what is a sign?

Answer 7

Neurodegenerative disorder

Autosomal Recessive

Jews

Cherry red spot

Question 8

What is the inheritance pattern of mitochondrial disease?

Answer 8

If the mother has it all the kids have it

Question 9

What is penetrance?

Answer 9

Proportion of population with a genetic trait who show clincal symptoms

Question 10

What is expressivity

Answer 10

Extent to which an individual with a genetic trait shows symptoms

Question 11

What is anticipation?

Answer 11

The tendency of a trait to be expressed earlier or more severely

EG CAG repeat in HD