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Flashcards in Genetic Diseases 3 Deck (22)
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1

Alzheimer's disease - late onset

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

2

congenital myopathy in Boarder Collies

inbreeding depression
-very common in pedigree dogs

3

syringomelia in King Charles Spaniel

inbreeding depression
- very common in pedigree dogs

4

immune response decrease in Song Sparrow

inbreeding depression
- very common in pedigree dogs

5

VLINCL disease in Finland

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

6

Tuttankhamen

inbreeding, incest diseases
Congenital foot malformation

7

Mirabilis plant

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

8

Neurospora fungus

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

9

Leber's hereditary optic neuropathy

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

10

Ragged red fibres

Progressive myoclonic epilepsy
- mitochondrial disease
- mother to sons/daughters

11

Woolbachia (bacteria)

Super common parasite in many insects
-maternally inherited
- could be used to treat Dengue?

12

Retinoblastoma

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

13

Rhagoletis Pomonella

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!

14

BRUCE effect in mice

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

15

self-incompatibility

in hermaphrodite flowers
- negative assortative mating
- multiple alleles as outbreeding mechanism

16

melanic Biston betularis

mutation, change in H-W

17

spread of MRSA

Methicillin-resistant Staphylococcus aureus
- mutation, Natural selection

18

Proteus syndrome

overgrowth of bone
- mutation, somatic
- Joseph Merrick - famous case

19

neurofibromatosis

high freq of tumors, small bumps on skin, also may be compressing nerves, learning difficulties
- mutation, spontaneous
- dominant
- calculate mutation rate

20

Bloom syndrome

short stature, predisposition to dvp cancer, genomic instability
- mutation in DNA repair enzymes
-recessive

21

Werner syndrome

Accelerated ageing
- mutation in DNA repair enzymes
- recessive

22

Xeroderma pigmentosum

lack repair enzyme, cant repair DNA damage from UV rays
- mutation in DNA repair enzymes
- recessive