LECTURE VI SUPPLEMENT

Question 1

dominant acting mutation in a child with no previous family history

Answer 1

new (de novo) mutation

Question 2

germline consists of more than one distinct population of cells (mutated and normal)

Answer 2

germline mosaicism

Question 3

the disease does not manifest until adulthood (>30 years usually)

Answer 3

delayed age of onset

Question 4

individual with the mutated genotype do not manifest symptoms at all?

Answer 4

reduced penetrance

Question 5

degree of severity of the disease?

Answer 5

variable expression

Question 6

gene mutation exerting effect on several tissues/organs

Answer 6

pleiotropy

Question 7

disease resulting from mutations in different genes (only one gene mutated at a time)

Answer 7

heterogenity

Question 8

transciptional inactivation of genes, resulting in different syndromes depneding of the sex of the parent

Answer 8

genomic imprinting

Question 9

earlier onset or more severe expression of the disease in more recent generations

Answer 9

anticipation

Question 10

mating between related individuals

Answer 10

consanguinity

Question 11

achondroplasia
NF type 1
marfan syndrome

Answer 11

new mutation

Question 12

osteogenesis imperfecti

Answer 12

germline mosaicism

Question 13

huntington disease

hereditary hemochromatosis

Answer 13

delayed age of onset

Question 14

retinoblastoma

fragile X syndrome

Answer 14

reduced penetrance

Question 15

NF type I

Answer 15

`variable expression

Question 16

cystic fibrosis
diabetes
marfan syndrome
von Gierke disease

Answer 16

pleiotropy

Question 17

osteogenesis imperfecti

Answer 17

heterogeneity

Question 18

prader willi syndrome

angel man syndrome

Answer 18

genomic imprinting

Question 19

myotonic dystrophy
fragile X syndrome
huntington disease

Answer 19

anticipation

Question 20

rare autosomal recessive disease

Answer 20

consanguinity