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POD > genetics - storing genetic info, chromosomes, mutations etc > Flashcards

genetics - storing genetic info, chromosomes, mutations etc Flashcards

1
Q

how many bases are there per turn in the helix of DNA?

A

10

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2
Q

what does the way the way the helix is wound result in structurally?

A

a major and minor groove

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3
Q

which direction does the double helix spiral?

A

clockwise (right-handed)

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4
Q

what are chromosomes?

A

a single piece of DNA containing many genes, regulatory elements and other nucleotide sequences

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5
Q

what is chromatin?

A

a mixture of DNA, proteins and RNA that package DNA within the nucleus

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6
Q

name the condensed and extended forms of chromatin?

A

condensed - heterochromatin

extended - euchromatic

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7
Q

which two mechanisms make chromatin more accessible for transcription/replication?

A
  • histones can be enzymatically modified

- histones can be displaced by chromatin modelling complexes

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8
Q

Which end of the growing strand can DNA polymerase add new nucleotides to during replication?

A

3’

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9
Q

What are formed on the lagging strand, which are joined together by DNA ligase to form one continuous strand?

A

Okazaki fragments

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10
Q

which specialised enzyme replicates the 5’ ends of the lagging strand?

A

telomerase

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11
Q

In which phase of mitosis are chromosomes most compacted and visible?

A

metaphase

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12
Q

Most amino acids are encoded by more than one codon. What is this referred to?

A

degeneracy

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13
Q

what is the third base of the codon referred to as?

A

the wobble position

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14
Q

which amino acid is termed the initiation codon and is also one of two to be coded by one codon?

A

methionine

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15
Q

name the three types of RNA

A

messenger
transfer
ribosomal

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16
Q

what is alternative splicing?

A

a process where the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing, resulting in multiple proteins

17
Q

what does rRNA do?

A

combines with proteins to form a ribosomes

18
Q

what’s the difference between the centromere and the kinetochore?

A

centromere is a constricted region joining sister chromatids whereas the kinetochore is a protein complex tat binds to microtubules

19
Q

does the heterochromatin or euchromatin contain active genes?

A

euchromatin

20
Q

how many histone proteins are in a nucleosome?

A

8

21
Q

roughly how many nucleosomes per turn of chromatin?

A

6

22
Q

What does karyotyping test?

A

the number and appearance of chromosomes in the nucleus

23
Q

what is the chromosome described as when the petite arm is tiny and has basically no coding?

A

acrocentric

24
Q

what are the four types of FISH probes?

A
  • unique sequence probes
  • centromeric probes (useful for determining chromosome number)
  • telomeric probes (useful for detecting subtelomeric rearrangements and often present in children with unexplained mental retardation)
  • whole chromosome probes (cocktail of probes covering different parts of a particular chromosome, used with different fluorescent dyes, spectral karyotype, useful for detecting translocations and rearrangements)
25
Q

which phase of mitosis does the karyotype come from?

A

metaphase

26
Q

what is gametogenesis?

A

the process by which cells undergo meiosis to form gametes

27
Q

name the two types of gametogenesis (male and female)

A

spermatogenesis

oogenesis

28
Q

What is the difference in gamete production per mitosis for males and females?

A

males produce 4 spermatids and females produce 1 ovum and 3 polar bodies

29
Q

which parent does the mitochondria come from when forming a zygote in fertilisation?

A

the mother - maternal inheritance

30
Q

what term describes when only one copy of the X chromosome in females is activated?

A

X-inactivation

31
Q

What are the 3 broad types of chromosomal abnormalities?

A

numerical, structural, mutational

32
Q

What genetic syndrome results when one X is missing? (monosomy)

A

Turner’s syndrome

33
Q

Which genetic syndrome results from 47, XXY?

A

Klinefelter syndrome

34
Q

Which genetic syndrome results from 47, XX+21

A

Down’s syndrome

35
Q

What is a robertsonian translocation?

A

when the whole arm of an acrocentric chromosome is translocated

36
Q

Name three autosomal aneuploidy syndromes?

A

Down
Patau
Edwards

37
Q

Name two sex chromosomes aneuploidy syndromes

A

Turner

Klinefelter

38
Q

Name the four coding genetic mutations

A

silent
missense
nonsense
frameshift

POD (1 decks)

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