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Genetics > Medical Genetics > Flashcards

Medical Genetics Flashcards

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Biology 101 flashcards
1
Q

What are the structural proteins in chromosomes and what is their function?

A

histones, regulatory function

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2
Q

What has to happen to DNA before it is transcribed?

A

must be unpacked

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3
Q

How can chromosomes be recognised? (3 ways)

A

banding patterns, length, position of centromere

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4
Q

In which type of chromosomes does the short arm not really matter?

A

acrocentric

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5
Q

Is there a phenotype effect in a reciprocal balanced translocation?

A

No

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6
Q

What increases the chance of Down’s Syndrome occuring?

A

If chromosomal change is caused by Robertsonian Translocation

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7
Q

What chromosome is there an extra one of in Down’s Syndrome?

A

21

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8
Q

What is Robertsonian translocation?

A

2 acrocentric chromosomes are stuck end to end

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9
Q

What does Robertsonian Translocation cause an increased risk of in pregnancy?

A

trisomy

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10
Q

What will trisomy 14 cause?

A

miscarraige

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11
Q

Why is X chromosome aneuploidy better tolerated?

A

due to X inactivation

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12
Q

What is 45X?

A

Turner’s Syndrome

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13
Q

What is 47XXX?

A

Triple X Syndrome

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14
Q

What is 47XXY?

A

Klinefelter Syndrome

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15
Q

In reciprocal translocation, what shape do the 2 pairs of chromosomes form and why?

A

a cross shape in order to synapse fully so recombination can take place

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16
Q

Will alternate segregation be normal or not?

A

Normal

17
Q

Will adjacent segregation be normal or not?

A

Not normal (unbalanced)

18
Q

What are the reproductive risks of reciprocal translocation?

A

50% will be normal, but the others will either be miscarraiged if large segments or dysmorphic delayed child if small segments

19
Q

What is FISH used for?

A

to view chromosomes

20
Q

How does FISH work?

A

identifies presence of specific chromosomes through hybridization (attachment) of fluorescently-labelled DNA probes to denatured chromosomal DNA

21
Q

Which molecular techniques count chromosomes?

A

Array Comparative Genomic Hybridization OR Quantitative PCR

22
Q

Which technique for counting chromosomes is 1st line and used at a genome wide level?

A

Array Comparative Genomic Hybridization

23
Q

Which technique is used for specific loci or chromosomes?

A

Quantitative PCR

24
Q

In which diseases is gonadal mosaicism much more common?

A

Duchenne muscular dystrophy

Osteogenesis Imperfecta

25
Q

What causes recurrence risk for autosomal dominant conditions even if parent is unaffected?

A

mosaicism

26
Q

What treatment is given in Philadelphia chromosome?`

A

Imatinib

27
Q

How can HER2 amplification be treated?

A

transtuzamab

28
Q

What does somatic mosaicism contribute to?

A

cancer

29
Q

Is cancer caused by switching on or off of oncogenes?

A

on

Genetics (7 decks)

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