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AB 1st Year Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

what direction is DNA replicated?

A

5’ to 3’

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2
Q

what is a chromosome made of?

A

DNA strand that has associated with proteins

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3
Q

what happens in G1 of the cell cycle?

A

cellular contents, apart from the chromosome, are duplicated

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4
Q

what happens in S of the cell cycle?

A

DNA replication

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5
Q

what happens in G2 of the cell cycle?

A

cell undergoes its second growth period and assembles the materials needed for mitosis

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6
Q

what happens in M of the cell cycle?

A

mitosis

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7
Q

in meiosis, one diploid cell becomes…

A

4 haploid

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8
Q

in mitosis, one diploid cell becomes

A

2 diploid

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9
Q

when does crossing over occur?

A

meiosis

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10
Q

in splicing, what is removed from pre mRNA?

A

introns (non coding)

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11
Q

what is a polymorphism?

A

Any variation in the human genome that does not cause a disease in its own right. It may however, predispose to a common disease

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12
Q

what is a mutation?

A

A gene change that causes a genetic disorder. (a disease causing mutation)

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13
Q

what are the parts of a chromosome?

A 
telomere
short arm (p)
centromere
long arm (q)
telomere
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14
Q

what is an acrocentric chromosome?

A

the short arm (p) is too small to see

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15
Q

what is a metacentric chromosome?

A

both arms are the same length

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16
Q

what is aneuploidy?

A

whole extra or missing chromosome

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17
Q

what is a Robertsonian Translocation?

A

two acrocentric chromosomes stuck end to end (only occurs with 13, 14, 15, 21, 22)

18
Q

trisomy 21

A

down’s syndrome

19
Q

trisomy 18

A

Edward syndrome

20
Q

45 X

A

Turner syndrome

21
Q

47 XXY

A

Klinefelter syndrome

22
Q

what are Reciprocal Translocations?

A

an exchange of genetic material between non homologous chromosomes (can be balanced or unbalanced)

23
Q

symptoms of Digeorge Syndrome

A
  • tetralogy of fallout
  • thymus problems
  • learning difficulties
24
Q

what is Somatic Mosaicism

A

two populations of genetically different cells within an individual

25
Q

what can her2 amplification cause?

A

breast cancer

26
Q

what is the Philadelphia chromosome?

A

a gene translocation in chromosome 22 of cancer cells

27
Q

7 types of mutations in DNA

A 
wild type
stop
missense
insertion
deletion (out of frame)
deletion (in frame)
triplet expansion
28
Q

what is Penetrance?

A

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

29
Q

pattern of X-Linked Recessive Inheritance?

A

for females - half male children affected, half female children carriers

for males - no male children affected, all female children carriers

30
Q

what is X inactivation?

A

one copy of the x chromosome in females is inactivated

31
Q

what is methylation and what does it do?

A

methyl groups added to DNA, it prevents transcription

32
Q

what is imprinting?

A

variation in gene expression, depending on which parent you inherit the gene from

33
Q

what happens in Angelman’s syndrome?

A

mother’s copy of UBE3A is methylated and does not work

34
Q

what is Heteroplasmy?

A

Different daughter cells contain different proportions of mutant mitochondria (similar to mosaicism)

35
Q

who is mitochondrial DNA inherited form?

A

mother

36
Q

what is epigenetic variation?

A

Functional modifications to the genome that do not involve a change in the nucleotide sequence

37
Q

where are the checkpoints in the cell cycle?

A

Between G2 and M

Between G1 and S

38
Q

how many copies of a tumour suppressor gene are required to be mutated for control to be lost?

A

2

39
Q

variation occurs via meiosis by..

A

Crossing over

Independent segregation of homologous chromosomes

40
Q

what is a telocentric chromosome?

A

The centromere is located at the terminal end of the chromosome

AB 1st Year Principles (8 decks)

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