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?

21
Q

roughly how many nucleosomes per turn of chromatin?

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
which phase of mitosis does the karyotype come from?
metaphase
26
what is gametogenesis?
the process by which cells undergo meiosis to form gametes
27
name the two types of gametogenesis (male and female)
spermatogenesis | oogenesis
28
What is the difference in gamete production per mitosis for males and females?
males produce 4 spermatids and females produce 1 ovum and 3 polar bodies
29
which parent does the mitochondria come from when forming a zygote in fertilisation?
the mother - maternal inheritance
30
what term describes when only one copy of the X chromosome in females is activated?
X-inactivation
31
What are the 3 broad types of chromosomal abnormalities?
numerical, structural, mutational
32
What genetic syndrome results when one X is missing? (monosomy)
Turner's syndrome
33
Which genetic syndrome results from 47, XXY?
Klinefelter syndrome
34
Which genetic syndrome results from 47, XX+21
Down's syndrome
35
What is a robertsonian translocation?
when the whole arm of an acrocentric chromosome is translocated
36
Name three autosomal aneuploidy syndromes?
Down Patau Edwards
37
Name two sex chromosomes aneuploidy syndromes
Turner | Klinefelter
38
Name the four coding genetic mutations
silent missense nonsense frameshift