Non-classical genetic mechs. in health and disease Flashcards Preview

Undeleted > Non-classical genetic mechs. in health and disease > Flashcards

Flashcards in Non-classical genetic mechs. in health and disease Deck (31):
1

why are twin fingerprints diff.

genes - similar pattern type and ridging
env. in utero - diff. where ridges meet end or bifurcate

2

how do ID twins become diff

somatic and lifestyle factors

3

how does methylation affect genes

no meth - expressed
meth - not expressed

4

how is methylation important (3)

1. important in intrinsic reg. of gene dosage
2. involved in lifelong genomic adaptations and response to env. stressors
3. can ID monozygote twins

5

how does X and Y differ

X gene rich, Y poor

6

what is X inactivation

inactivate one X to control gene dosage

7

what is skewed x inactivation

end up inactivating the good gene

8

what is imprinting

certain genes in autosome chromosomes unergo silencing bia meth or histone

9

what is effect of imprinting

genes from ONE parent are expressed, not both

10

how do imprinted genes present

dose sensitive

11

what is mosaicism

get at least two cell lines of a differing genotype from the same zygote

12

what causes masiaicms

mitotic mistake

13

what is temporal effect of misaicsm

earlier will be more widespread

14

what happens in germline mosaisism

bb will be all the same

15

what happens if mutation is picked up in the skin, but the germ line is fine

bb won't be affected

16

what is neurofibromatosis1 (NF1)

- cafe-au lait spots
- fezking-
- nodules
- learning dis.

17

what is mitochondial DNA

special circular DNA that codes 37 genes

18

how does mito DNA mutate

sensitive to env. effects
- rad
- pesticides
- viruses

19

what happens with more mutations

at some point get enough mutation that can't produce E effectively

20

what may be outcomes in children with mother of mito mosaicism

could be fine, but also spectrum to severe probelms

21

what is fragile X effects

lots of mental health problems

22

what causes fragile X (FMR1)

# of CGG repeats
- the more repeats, the less FMRP protein
- less protien, more problems

23

what is FMR1 full mutation

fragile X - variable based on number of CGG repeats

24

what is FMR1 premutation (3)

1. premature ovarian failure
2. tremor ataxia syndrome
3. incre. risk of psych

25

what are triplet repeat expansion disoreder

expansion of a segment that has these releaps

26

what is anticipation

progressively earlier onset of problems in generations with disorder bc repeats expand over generations

27

what are gene-dose effects for skewed x inactivation

X linked disorders in females

28

what are gene-dose effects for impriting

essential for normal growth dev. and behaviors

29

what are gene-dose effects for mosaicism

somatic mutaiton load
- gonadal mosaiscsm

30

what are gene-dose effects for mitochondiral heteroplasmy

mutation load

31

what are gene-dose effects for trpilet repeat disoredse

more repeats, more problems

Decks in Undeleted Class (589):