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Foundations of Medicine JMO > Genetic variation introduction > Flashcards

Genetic variation introduction Flashcards

1
Q

What is found at the end of each arm of a chromosome?

A

Telomere

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2
Q

What letter is given to the short arm of a chromosome?

A

P

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3
Q

What letter is given to the long arm of a chromosome?

A

Q

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4
Q

What is an acrocentric chromosome?

A

A chromosome that only has a long arm

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5
Q

What is a balanced chromosome rearrangement?

A

A rearrangement in which all chromosomal material is present

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6
Q

What is an unbalanced chromosome rearrangement?

A

A rearrangement in which there is missing or extra chromosomal material

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7
Q

What is a aneuploidy?

A

A condition in which there is a whole extra or missing chromosome

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8
Q

What is a translocation?

A

The rearrangement of chromosome

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9
Q

What is a microdeletion?

A

A deletion that is too small to see when karyotyping

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10
Q

What is the medical name for Down’s syndrome?

A

Trisomy 21

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11
Q

What is the cause of Trisomy 21?

A

An extra chromosome 21

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12
Q

What is the karyotype of a male with Down’s syndrome?

A

47XY + 21

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13
Q

What is the medical name for Edward’s syndrome?

A

Trisomy 18

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14
Q

What is the cause of Trisomy 18?

A

An extra chromosome 18

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15
Q

What is the karyotype of a male with Edward’s syndrome?

A

47XY + 18

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16
Q

What is a Robertsonian translocation?

A

A translocation in which 2 acrocentric chromosomes attach end to end

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17
Q

What is the cause of Turner syndrome (Monosomy X)?

A

A missing X chromosome in a female

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18
Q

What is the karyotype of a female with Turner syndrome?

A

45X

19
Q

What is the karyotype of a female with triple X syndrome?

A

47XXX

20
Q

What is the cause of Triple X syndrome?

A

An extra X chromosome in a female

21
Q

What is the cause of Klinefelter syndrome?

A

An extra X chromosome in a male

22
Q

What is the karyotype of a male with Klinefelter?

A

47XXY

23
Q

What is a reciprocal translocation?

A

A translocation in which a section of one chromosome is swapped with a section of another chromosome

24
Q

What is array CGH?

A

A genome wide genetic test that shows the number of a each gene, allowing deletions and insertions to be shown

25
Q

What is mosaicism?

A

Different cells have a different genetic constitution

26
Q

What does Next generation sequencing allow?

A

Large scale sequencing

27
Q

What is a mutation/ pathogenic variation?

A

A genetic variation that causes a disease

28
Q

What is a polymorphism/ benign variant?

A

A genetic variation that is prevalent in the population and not, in itself, disease causing

29
Q

What is the most common base mutation?

A

From cytosine to thymine

30
Q

What is a premature stop mutation?

A

A mutation in which a codon mutates to form a stop codon earlier in the sequence

31
Q

What is a missense mutation?

A

A mutation in which one base is mutated into another

32
Q

What is an insertion mutation?

A

A mutation in which an extra base is added to the sequence, resulting in a frame shift

33
Q

What is a deletion mutation?

A

A mutation in which a base is removed from the sequence, resulting in a frame shift

34
Q

What is a triplet expansion mutation?

A

A mutation in which a DNA triplet is replicated

35
Q

How is a change in base sequence displayed?

A

c. (base number) (initial base)>(mutated base)

36
Q

How is a change in protein sequence displayed?

A

p. (initial amino acid) (amino acid number) (Mutated amino acid)

37
Q

How is a stop codon displayed in nomenclature?

A

Ter or *

38
Q

How is a deletion displayed?

A

c. (base number) del (base)

39
Q

How is a frame shift represented in nomenclature?

A

fs

40
Q

What is the effect of a change in promotor or splice sequence?

A

Can stop transcription or cause abnormal splicing

41
Q

What are the steps of filtering?

A

Exclude if it is a known polymorphism
Keep if affects gene function (stop, splice)
Is it in a gene that affects phenotype

42
Q

What is penetrance?

A

The likelihood of having a disease if you have a gene mutation

43
Q

What type of inheritance causes blood related disorders and blood types?

A

Co-dominant inheritance (2 dominant genes)

Foundations of Medicine JMO (56 decks)

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