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FOM Quiz 5 > 10/16 genetics > Flashcards

10/16 genetics Flashcards

1
Q

what is the typical inheritance of mitochondrial diseases?

A

they are inherited from the mother and the mother will pass it on to all of her offspring (though incomplete penetrance is posible.

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2
Q

what are some importanct features of mitochondrial genetic mutations?

A

inheritance is maternal.

Mutation rate is high.

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3
Q

why would the mitochondria have such a high mutation rate?

A
  • repair is not as efficient.

- There are a lt of oxidative species in the mitochondria.

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4
Q

what is heteroplamsy in genetic?

A

mitochondrial mosaicism within cells!

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5
Q

why would we see expression of some mitochondria mutations in some cells but not all the cells of an individual

A

Heteroplasmy is very common

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6
Q

what are some common diseases that see mitochondrial mutation genetics

A 
deafness
type 2 diabetes
alzheimer disease?
parkinson disease?
aging...
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7
Q

what is somatic cell nuclear transfer?

A

healthy donar egg has the nucleus removed and the “mother’s” nucleus is put in and then that is used for IVF!

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8
Q

what is the most common cause of pregnancy loss?

A

Chromosome abnormalitites

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9
Q

what is the most common cause of intellectual disability?

A

Chromosome abnormalities.

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10
Q

genetic term for multiple of “true number” of chromosome

A

Euploid

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11
Q

23 chromosomes

A

Haploid

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12
Q

46 chromosomes

A

diploid

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13
Q

69 chromosomes

A

triploid

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14
Q

92 chromosomes

A

tetraploid

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15
Q

Genetic term for number of chromosomes that is not a multiple of the “true number”

A

Aneuploid

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16
Q

One copy of a specific chromosome

A

Monosomy

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17
Q

Three copies of a specific chromosome

A

Trisomy

18
Q

Compare How is the survivial for Monosomy of any chromosome to Trisomy

A

No survival for monosomy; but survival of trisomy is reletively common. it seems that it is better to have more than not have enough chromosomes

19
Q

how did we ever get a picture of the chromosomes?

A

use colchicine (spindle poison) to arrest the cells in metaphase, and use a hypotonic solution to swell and break the cell and visualize the chromosomes.

20
Q

what is Giemsa stain?

A

It is G-banded staining of chromosomes that gave them stripes by the amount of A,T that the different sections have

21
Q

the image of the chromosomes of an individual by G-banding staining

A

Karyogram

22
Q

Where are the genes in G-banded staining

A

in the light staining reagions (A,T poor regions)

23
Q

the effects of having an extra copy of all of the chromosomes

A

Occipital and other skull bone problems
hypercesis
heart defects

Lethal in a short time after birth

24
Q

How could we get triploid genotypes?

A

two sperm cells could fertilize the egg.

could also see egg cells with diploid (myotic failure)

25
Q

How do Triploids usually give us a good example of imprinting effect?

A

Dad source of triploidy: large fetus

Mom source of triploidy: small Fetus

26
Q

what are some of the major features seen in Down Syndrom?

A 
Intellectual disability
Congenital heart defects
reduced stature; char. facial appearance
increased risk of leukemia
increased risk of repiratory infections
neurohistopathology of alzheimer disease by age 40 (amyloid plaques)
27
Q

why would down syndrome patients develop alzheimer by 40 years old?

A

Gene 21 gives beta-amyloid precursor protein gene and the over production of this probably leads to amyloid plaques!

28
Q

what are the facial features of Down syndrome?

A 
Strabismus
large tounge and somewhat protrude
epicanthic fold by the nose and the eye
brushfield spots in the iris that gives it a speckled apearence
upslanting palpebral fissures
Small ear and folded ear
29
Q

Hypoplastic ear, and folding of the ear….

A

h

30
Q

what are the had features of D. Syndrom?

A

Single transverse palmer crease

single flexion crease in the inside of the finger.

31
Q

how is the survival of Down syndrom?

A

the median age of survival is about the mid Fifties.

32
Q

What is the key in the process of developing Down Synderom?

A

nondisjunction where we have a failure in miosis I or Miosis II where the chromosomes don’t seperate and you get a monosomic or a trisomic gamete.

33
Q

what causes the non-disjuction that leads to down syndrome?

A

the only thing that we have been able to coorilate to the occurance of D. syndrome is age of the mother. dramatic increase in risk after 35!

34
Q

why would there be a large increase in the occurance of D. syndrome with an older mother

A

the microtubule and the cohesion proteins that are in the eggs tend to degrade over time.

35
Q

how do single gene defect rates and trisomy rates differ for paternal genes?

A

the father’s age does not affect the rate of trisomy but it does effect the single gene mutation rate greatly!

36
Q

why would you have an increased risk of a second child with down syndrome if a mother has one?

A

germ line mosaisism where the genes of multiple eggs have trisomy

37
Q

what is the recurrence risk for the offstpring of a down syndrome mother?

A

50% because half will have the trisomy in the eggs

38
Q

why would you see a smaller chance of down syndrome from D. syndrome mohters than predicted

A

75% of pregnancy is spontaniously lost

39
Q

how could you have a down syndrome that can be tested in the blood and not be present and be there in other tissue?

A

somatic mosaicism seen in 1-5% of cases. sometimes milder expression. Tissue-specific mosiacism may occur

40
Q

What could be a potential future cure of trisomey 21?

A

XIST inactivation. using the X inactivation gene and targeting it to the chromosome 21 and turning it into a non-transcriptional bar-body.

41
Q

What is the vitality of the mitochondrial genome?

A

The are important in the energy production in mitochondrial.

FOM Quiz 5 (6 decks)

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