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Flashcards in Genetics of Development Deck (43):
1

regulative phasee

cells are functionally equivalent and loss of a part of embryo can be compensating for by neighboring similiar cells

2

mosaic phase

a loss of cell cannot be compensated

3

what are the 3 axes in the embryo

anterior postier
dorsal ventral
left right

4

what axes is the first visible structure in the embryo

anterior posterio

5

what does extoderm form

skin and nerovus system

6

what does mesoderm form

bones, muscle, internal organ

7

what does endoderm form

cells of gut and leng epithlum

8

what proteins specify dorsal;/ventral axis

noggin and chordin

9

what signaling protein causes left right asymmetry

sonic hedgehog

10

hodal

initated the left looping of the heart tube

11

situs inverstus

organs are the mirror image of what they are supposed to be

12

situs ambiguus

orientation of the organs is radmosized

13

shoulder to fingertep is

proximal distal

14

thumb to 5th finger is

anterior posterio

15

dorsum to palm is

dorsal ventral

16

patterning along the anteior/posterio axis is determined by waht

HOX genes

17

what do HOX genes contain

DNA binding domain called homeodomain

18

;what are the 5 mechanisms operating in development

gene regulation by transcription factors and chromatin modifation
cell-cell signalling
development of specific cell shape and polarity
movement and migration of cells
programmedc ell death

19

malformation

intrinsic abnoramlity in the developmental process -

20

example of malformation

polydactylyl

21

deformation

extrinsic influence on teh development of affected tissue

22

example of deformation

lack of aminiotic fluid puts contstraite on fetus

23

disruption

destruction of developing tissue

24

example of disruption

amniotic bands wrap aroun dfetal limbs

25

isolated anomlaie

affect a single body region (cleft palet)

26

sequence

cascase of events that leads to multiple malformations

27

syndrome

affect several body regions and most often display chromosomal or mendelian inherence

28

a squence is present when

disease phenotypes are caused sequentially by a single defect

29

a syndrome is present when

all of the disease phenotypes are caused by a single defect simultaneously

30

how are anomalies classied

stage of development when the defect happened

31

abnoramlity oxxuring during the first 1-4 weeks of development prodcue what

multiple major abnormalities in entire embryonic regions

32

abnoramlities occuring from week 5 to week 8 produce waht

affect specific organs and produce single major anomalies

33

abnoramlies occurring after week 9 affect what

mild effect

34

major anomaliy

have surgical or cosemntic conseuqnces

35

mino anomalies

have little impact on well -being of pt

36

what percentage of children are born with a recognizable birth defect

2-3%

37

how many infant deaths are caused by prematurity

20%

38

how comman afer heart defects

1/100 -1/200 live births

39

how common is pyloric stenosis

1/300

40

how common is neural tube defect

1/1000

41

how common is orofacial cleft

1/700 - 1/1000

42

how common is clubfoot

1/1000

43

what are teh msot frequenct identifable cuase for birth defect

genetic defect