Unusual Modes of Inheritance

Question 1

What % penetrance does Achondroplasia have?

Answer 1

100%

Question 2

In which type of inheritance, Mendelian or Non-Mendelian, is the mutation just another risk factor?

Answer 2

Non-Mendelian

Question 3

What is imprinting?

Answer 3

Variation in gene expression depending on

which parent you inherit the gene from

Question 4

How much genetic information do monozygotic twins share?

Answer 4

100%

Question 5

How much genetic information do dizygotic twins share

Answer 5

50%

Question 6

How can you work out if a disease has a genetic contribution?

Answer 6

recurrence risk in siblings

twin studies

Question 7

What does P<0.05 mean?

Answer 7

P<0.05 means 1 in 20 probability that the date has happened by chance

Question 8

What is Filaggrin deficiency strongly associated with?

Answer 8

eczema

Question 9

Which SNPs segregate together?

Answer 9

those very close together on same chromosome

Question 10

Where does DNA methylation usually occur?

Answer 10

on cytosine bases just before guanine bases

Question 11

What does methylation do to transcription?

Answer 11

represses it

Question 12

What does methylation cause in cancer?

Answer 12

gene slicing

Question 13

Why are many mutations are C to T?

Answer 13

Methyl Cytosine mutates easily to Thymine

Question 14

Is mitochondrial DNA normally inherited maternally or paternally?

Answer 14

maternally

Question 15

What does severity and nature of phenotype depends on?

Answer 15

proportion of mitochondria carrying a mutation
level of mutated mitochondria in each tissue
type of mutation

Question 16

What type of disease are these all symptoms of: Myopathy, Diabetes, Deafness, Optic atrophy, Stroke like episodes, Encephalitis?

Answer 16

Mitochondrial disease

Question 17

Are sons and daughters equally affected in Mitochondrial disease?

Answer 17

Yes

Question 18

Is mitochondrial inheritance rare?

Answer 18

Yes