Genetics Lecture III

Question 1

examples of autosomal dominant conditions

Answer 1

neurofibromatosis type 1 and type 2
Huntington disease
familial breast cancer due to BRAC1

Question 2

examples of autosomal recessive conditions

Answer 2

sickle cell anemia
cystic fibrosis
phenylketonuria (PKU)

Question 3

pedigree trends for autosomal dominant conditions

Answer 3

multiple generations
equal amount of males and females
male to male transmission

Question 4

pedigree trends for autosomal recessive conditions

Answer 4

horizontal transmission

equal amount of males and females affected

Question 5

pedigree trends for a X-linked conditions

Answer 5

all daughters of affected males will be carriers, vertical transmission

Question 6

de nevo

Answer 6

new mutations arise, not inherited

Question 7

mosaicism

Answer 7

some cells are affected some are not

Question 8

pleiotropy

Answer 8

one gene with numerous potential outcomes or variations

Question 9

neurofibromatosis

Answer 9

can be clinically diagnosed and confirmed via genetic testing; have to have two of the features; de nevo; pleiotropy

Question 10

examples of x-linked diseases

Answer 10

incontinentia pigmenti
hemophilia A and B
duchenne muscular dystrophy
hypophosphatemic rickets

Question 11

codominance

Answer 11

blood types

Question 12

mitochondrial inheritance

Answer 12

maternally inherited, homoplasmy or heterplasmy

Question 13

mother with mtDNA mutations will affect

Answer 13

all of her offspring and usually organs that require energy are affected

Question 14

homoplasmy

Answer 14

all mitochondria are the same variant

Question 15

heterplasmy

Answer 15

different variants of mitochondria mixture of normal and abnormal mitochondria

Question 16

mitochondrial inheritance examples

Answer 16

MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes)
Lebers hereditary optic neuropathy

Question 17

outcome of interest is divided by

Answer 17

total possible outcomes

Question 18

timely medical benefits to the child should be the primary justification for

Answer 18

genetic testing