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craniofacial development > genetics and anomalies > Flashcards

genetics and anomalies Flashcards

1
Q

what is unique about homeobox genes?

A

one master gene regulates the expression of many genes

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2
Q

what type of things do homeobox genes control?

A

induction
differentiation
apoptosis
morphogenesis
patterning

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3
Q

what triggers homeobox genes?

A

growth factors

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4
Q

list the growth factors involved in signally to homeobox genes?

A

TGF
EGF
FGF
BMPs

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5
Q

what are the genes that control tooth bud development?

A

MSX1 and MSX2

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6
Q

what is the signally cascade known as?

A

morphogenetic cascade

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7
Q

what does autosomal dominant mean?

A

that only one faulty gene from one parent is needed to cause disease

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8
Q

what generations would an autosomal dominant condition be seen in?

A

all generations

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9
Q

what are the chances of having an affected child with AD?

A

50%

and diseases severity is variable

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10
Q

what are examples of AD diseases ?

A

-dwarfism
-couzens syndrome
-cleidocranial dysostosis
-dentogenesis imperfecta- opalescent dentine- translucent and discoloured
-Van Der Woude- cleft palate/lip and lip pits

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11
Q

what is meant by autosomal recessive inheritance?

A

both faulty genes from each parent is required to cause disease

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12
Q

does AR affect all generations ?

A

no, normally only 1

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13
Q

what is the chances your child will be affected by AR inheritance?

A

1 in 4

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14
Q

what makes the risk of AR disease higher?

A

consanguineous (same blood line)

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15
Q

what is x linked recessive?

A

where fault can only be on x chromosome

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16
Q

would someone with an x recessive show symptoms of disease?

A

they may show mild

17
Q

what is the outcome of x recessive inheritance ?

A

1/2 females will be carriers
1/2 males will be affected

18
Q

what are examples of x recessive inheritance?

A

ectodermal dysplasia
hypodontia and conical teeth

19
Q

what is x inactivation inheritance?

A

when only one X chromosome is active in females

20
Q

what is another word for x inactivation?

A

lyonisation

21
Q

what are multifactorial disorders?

A

these are disorders that are caused by both genetic and environmental factors

22
Q

what does multifactorial threshold mean?

A

this means traits only present if genetic and environmental factors are met? genetics makes them susceptible and environmental factors are triggers

23
Q

what are examples of multifactorial disorders?

A

cp
cl
diabetes
heart disease
asthma

24
Q

what are public health interventions?

A

total pop-diet nutrition
targeted- screening

25
Q

what type of screening is used for these genetic disorders?

A

genetic screening

  • to locate genetic changes or genetic abnormalities comparing to humans without the disease using markers (human genome project-location is known)

craniofacial development (9 decks)

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