Genetic Diseases 3

Question 1

Alzheimer’s disease - late onset

Answer 1

ε4 allele at APOE locus( from GWAS)

• genetics of behaviour
• other alleles seem protective even, but hmz ε4/ε4 has 1/2 chance of AD by 70yrs

Question 2

congenital myopathy in Boarder Collies

Answer 2

inbreeding depression

-very common in pedigree dogs

Question 3

syringomelia in King Charles Spaniel

Answer 3

inbreeding depression

- very common in pedigree dogs

Question 4

immune response decrease in Song Sparrow

Answer 4

inbreeding depression

- very common in pedigree dogs

Question 5

VLINCL disease in Finland

Answer 5

Progressive encephalopathies in children with psycho-motor deterioration, visual failure and premature death
small population - inbreeding

Question 6

Tuttankhamen

Answer 6

inbreeding, incest diseases

Congenital foot malformation

Question 7

Mirabilis plant

Answer 7

Matrilineal inheritance (chloropl)
- variegated 
offspring plants are the colour of mother,  colour of father irrelevant

Question 8

Neurospora fungus

Answer 8

poky phenotype
matrilineal inheritance (mitoch)
 phenotype can be transferred w/ cytoplasmic injection

Question 9

Leber’s hereditary optic neuropathy

Answer 9

degeneration of RetinalGC + axons
mitochondrial disease
-mother to sons/daughters

Question 10

Ragged red fibres

Answer 10

Progressive myoclonic epilepsy

• mitochondrial disease
• mother to sons/daughters

Question 11

Woolbachia (bacteria)

Answer 11

Super common parasite in many insects

• maternally inherited
• could be used to treat Dengue?

Question 12

Retinoblastoma

Answer 12

in Tristan da Cunha

• bottleneck effect
• > 1woman of initial 3 people had the allele¿?

mutation, somatic&hereditary

• caused by 2 somatic mutation OR 1 inherited mutation + 1 somatic

Question 13

Rhagoletis Pomonella

Answer 13

hawthorn pest that moved to apple

• positive assortative mating
• the bugs, although the same species, emerge at different time if live in hawthorn or in apple, so don’t mate!

Question 14

BRUCE effect in mice

Answer 14

negative assortative mating

- female pregnant mouse will abort/reabsorb babies if in contact with a different male

Question 15

self-incompatibility

Answer 15

in hermaphrodite flowers

• negative assortative mating
• multiple alleles as outbreeding mechanism

Question 16

melanic Biston betularis

Answer 16

mutation, change in H-W

Question 17

spread of MRSA

Answer 17

Methicillin-resistant Staphylococcus aureus

- mutation, Natural selection

Question 18

Proteus syndrome

Answer 18

overgrowth of bone

• mutation, somatic
• Joseph Merrick - famous case

Question 19

neurofibromatosis

Answer 19

high freq of tumors, small bumps on skin, also may be compressing nerves, learning difficulties

• mutation, spontaneous
• dominant
• calculate mutation rate

Question 20

Bloom syndrome

Answer 20

short stature, predisposition to dvp cancer, genomic instability

• mutation in DNA repair enzymes
• recessive

Question 21

Werner syndrome

Answer 21

Accelerated ageing

• mutation in DNA repair enzymes
• recessive

Question 22

Xeroderma pigmentosum

Answer 22

lack repair enzyme, cant repair DNA damage from UV rays

• mutation in DNA repair enzymes
• recessive