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Enzymes > Genetics of development > Flashcards

Genetics of development Flashcards

1
Q

When the zygote divides into 16 cells, what does it then become?

A

Morula

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2
Q

What does the morula turn into?

A

Blastocyst

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3
Q

What two layers of cells does the blastocyst form?

A

Epiblast and hypoblast cells

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4
Q

Which layer of cells develops into the embryo?

A

Epiblast cells

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5
Q

What are the three layers of cells derived from epiblast cells?

A

Ectoderm, mesoderm, endoderm

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6
Q

what is the first axis of the embryo?

A

primitive streak

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7
Q

When can cells of the developing embryo be mutated and have the remaining cells compensate for it?

A

Regulative phase (up until primitive groove formation I think)

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8
Q

What is the phase of development after the regulative phase?

A

Mosaic phase

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9
Q

What are the three axes that are defined in the developing embryo?

A

crainial-caudal
dorsal ventral
left-right

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10
Q

What is the first axis to be developed in the embryo? What is it defined by?

A

anterior/posterior

primitive streak

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11
Q

Where do ectodermal cells invade into the space between the epiblast and hypoblast cells?

A

primitive streak

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12
Q

Where is the node of the primitive streak?

A

At the anterior end

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13
Q

What are the proteins that are secreted to specify the cranial/caudal ends?

A

noggin and chordin

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14
Q

What is the protein that causes the left/right axis to develop due to its unequal secretion at either end?

A

Sonic Hedgehog

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15
Q

Where is the sonic hedgehog protein produced from?

A

notocord

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16
Q

What protein is secreted from the left side of the notocord and is responsible for development of that side?

A

nodal

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17
Q

A defect in the right/left axis development that leads to the inversion of all of the internal organs is called what?

A

situs inversus

18
Q

What is situs ambiguus?

A

Random dispersal of internal organs

19
Q

In the axis of the embryonic limb the thumb to the fifth finger is designated what?

A

Anterior/posterior

20
Q

What is the process of patterning?

A

The process by which the developing embryo divides up what part of the developing cell mass become thorax, abdomen, head etc.

21
Q

Patterning along the anterior/posterior axis is determined by what genes?

A

the homeobox genes (HOX)

22
Q

How does HOX determine the anterior/posterior axis?

A

different ratio of expression at different sites

23
Q

What are the 5 cellular mechanisms operating in development?

A
  1. Gene regulation by transcription factors/chromatin modification
  2. Cell-cell signalling
  3. development of specific cell shape and polarity
  4. movement and migration of cells
  5. programmed cell death
24
Q

What are malformations?

A

Problems with development that result from an intrinsic abnormality in the development process

Originate from the organ itself

25
Q

What are deformations?

A

Problems with development that result from an extrinsic influence on the development of the affected tissue

Do no originate from the organ itself

26
Q

What is oligohydraminos?

A

Lack of amniotic fluid during development?

27
Q

What are disruptions?

A

Problems with development that result from the destruction of developing tissue

28
Q

What are isolated anomalies?

A

anomalies that affect a single body region.

29
Q

What is a sequence in the context of birth defects?

A

It is a cascade of events that starts from an isolated anomaly, and leads to multiple malformations (phenotype)

30
Q

What are syndromes?

A

Phenotypes that affect several body regions; disease phenotype caused by a single defect simultaneously

31
Q

How are anomalies classified?

A

By the time at which they occur in development

32
Q

What are the most severe anomalies?

A

when they occur within the first 1-4 weeks of development

33
Q

What is the VACTERL association?

A

Vertebral, Anal atresia, Cardiac, Tracheo-Esophagal fistula, Renal/Radial defects, Limb defects

34
Q

What is the major risk factor for VACTERL?

A

Mother DM

35
Q

How do abnormalities occurring from week 5-8 present?

A

Specific organs affected, with single major abnormalities (congenital heart defects)

36
Q

How do abnormalities occurring after week 9 present?

A

mild effects

37
Q

How are MAJOR anomalies defined?

A

Anything the requires surgery or major cosmetic consequences

38
Q

How are MINOR anomalies defined?

A

Have little impact on the well-being of the patient.

39
Q

What percentage of children are born with genetic birth defects in the U.S.?

A

2-3%

40
Q

What percentage of infant mortalities are due to birth defects? Prematurity?

A

20%, 20%

41
Q

What are the five most common birth defects?

A 
Heart defects (1/100-1/200)
Pyloric stenosis (1/300)
Neural tube defects (1/1000)
Orofacial clefts (1/700-1/1000)
Clubfoot (1/1000)
42
Q

What percentage of genetic defects have a complex inheritance? chromosomal defects? single gene mutations?

A

50% for complex
25% for chromosomal
20% for single gene
5% for nongenetic factors

Enzymes (24 decks)

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