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Biochem V > Genetics of Development > Flashcards

Genetics of Development Flashcards

1
Q

A cell can be removed in what phase during pre-implantation diagnosis?

A

Morula

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2
Q

What is the first axis visible in the embryo?

A

anterior-posterior

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3
Q

What structure defines the anterior posterior axis?

A

primitive streak

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4
Q

What does the primitive streak mark?

A

Where ectodermal cells invade the space between the epiblast and the hypoblast

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5
Q

What does the ectoderm form?

A

skin and nervous system

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6
Q

What does mesoderm form?

A

bone, muscle and most internal organs

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7
Q

What will the endoderm form?

A

cells of the gut and lung epithelium

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8
Q

Where is the node located?

A

at the anterior end of the primitive streak

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9
Q

What is the function of noggin and chordin?

A

to induce dorsal development

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10
Q

Where are noggin and chordin released from?

A

the node

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11
Q

Where is Shh released from?

A

notochord

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12
Q

What is the function of Shh?

A

right/left asymmetry

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13
Q

What is situs inversus?

A

where internal organs are a mirror image of what is normally found

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14
Q

What is the condition called where the organs are randomized in their location?

A

situs ambiguus

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15
Q

What is situs ambiguus usually accompanied with?

A

heart defects

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16
Q

What is the function of the homeobox (HOX) genes?

A

patterning along the anterior/posterior axis

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17
Q

What is patterning?

A

determining what part of the embryo divides into specific parts

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18
Q

What are malformations?

A

an intrinsic abnormality in the developmental process

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19
Q

What do deformations result from?

A

extrinsic influence on the development of an organism

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20
Q

What do disruptions result from?

A

destruction of developing tissue

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21
Q

What is a sequence?

A

a cascade of events resulting from a single anomaly

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22
Q

What is a syndrome?

A

when all disease phenotypes are caused by a single defect

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23
Q

What do defects arising between 1-4 weeks development produce?

A

multiple organ abnormalities

VACTERL

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24
Q

What is a major risk factor for VACTERL defects?

A

maternal diabetes

25
Q

What do abnormalities occurring from week 5 to 8 affect?

A

specific organs to produce specific anomalies

26
Q

What are cells during the regulative phase?

A

functionally equivalent

27
Q

A morula is in what phase of development?

A

regulative

28
Q

A loss of a cell in the mosaic phase results in what?

A

loss of tissue the cell was destined to become

29
Q

The primitive streak is formed by what type of cells?

A

Ectoderm

30
Q

What is the first visible axis in the embryo?

A

anterior/posterior axis

31
Q

What is the anterior/posterior axis defined by?

A

primitive streak

32
Q

What two proteins are secreted from the node?

A

noggin and chordin

33
Q

What are the functions of noggin and chordin?

A

induce dorsal development in a concentration dependent manner

34
Q

Where is the node located?

A

anterior end of primitive streak

35
Q

What protein is responsible for left/right asymmetry?

A

Shh

36
Q

Where is Shh secreted from?

A

notochord

37
Q

Asymmetric expression of Shh leads to left sided expression of what protein?

A

Nodal

38
Q

A defect in left/right formation is referred to as what?

A

situs inversus

39
Q

What describes a condition in which organs are randomized in their location?

A

situs ambiguus

40
Q

Patterning along the anterior/posterior axis is controlled by what family of genes?

A

HOX

41
Q

What causes malformations?

A

intrinsic abnormality

42
Q

What causes deformations?

A

extrinsic influence

43
Q

What causes disruptions?

A

result from the destruction of developing tissue

44
Q

Isolated anomalies affect what?

A

a single body region

45
Q

What is a sequence?

A

cascade of events starting from an anomaly

46
Q

What do syndromes affect?

A

several body regions

47
Q

What kind of inheritance do syndromes possess?

A

Mendelian

48
Q

When do abnormalities that affect single organ systems originate?

A

week 5 to 8

49
Q

Defects in the weeks of 1-4 can be characterized by what acronym?

A

VACTERL

50
Q

What maternal behavior is a risk for VACTERL?

A

diabetes

51
Q

In order, what is the order of the most common congenital malformations?

A

heart defects, pyloric stenosis, neural tube defects, orofacial clefts, clubfoot

52
Q

Where is the node located?

A

anterior end of primitive streak

53
Q

Where are noggin and chrodin secreted from? What is their function?

A

the node

induce dorsal development

54
Q

Where is Shh secreted from? What is its function?

A

notochord

right/left development

55
Q

What gene is required for the formation of the primitive streak?

A

Nodal

56
Q

What two conditions can arise from defects in right/left development?

A

situs inversus and situs ambiguus

57
Q

What is the function of the HOX genes?

A

to develop patterning along the anterior/posterior axis

58
Q

What disease does the Philadelphia Chromosome cause?

A

acute myeloid leukemia

Biochem V (11 decks)

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