genetic aspects of metabolism Flashcards

1
Q

somatic cell

A

diploid

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2
Q

nucleosomes packed by

A

soleniod histones

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3
Q

genome size is proportional to

A

complexity not gene number

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4
Q

more complex organisms have

A

decreased gene density

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5
Q

gene density =

A

number of genes per megabase of genomic dna

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6
Q

interspersed repeats

A

individual repeat units

distributed around the genome

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7
Q

Microsatellites

A

tendem repeats

of units 2-4 bp

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8
Q

Minisatellite (ccccgggg)(ccccgggg)100

A

10-100bp repeated in tendem array
refered to as variable number tendem repeats
prone to mutation

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9
Q

mitochondria each contain

A

2 - 10 copies of circular dna genome

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10
Q

defects in chromosome 1-22 are

A

autosomal

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11
Q

cf is an

A

autosomal recessive disease

-cftr encodes a cl- ion transporter

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12
Q

autosomal dominant

A

huntingtons disease

neuronal degeneration

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13
Q

x linked disorder

A

haemophilia
inability to form blood clots
lack of factor 7

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14
Q

point mutations, transition

A

same type purine or pyrimidine

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15
Q

point mutation, transversion

A

different type

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16
Q

causes of mutation, replication error

A

error in bases very rare, can be repaired

repetitive regions causes slippage and insert more repeats and cant be repaired

17
Q

causes of mutation, tautomeric shift

A

base has structural alteration, tautomerization

18
Q

amino group (NH2) to

A

Imino group (=NH)

19
Q

Keto group (-c=o) to

A

Enol group (c-oh)

20
Q

causes of mutation, deanimation

A

loss of amino group

of C, A, G

21
Q

C deanimation

A

uracil (pairs A)

22
Q

A deanimation

A

hypoxanthine (pairs C)

23
Q

G deanimation

A

xanthine (pairs C less strongly)

24
Q

5 methyl C - T cannot

A

be repaired and the others can

25
Q

causes of mutation, depurination

A

removal of a base resulting in a guess for the complementary base in the next replication

26
Q

Mutagens

there are 5

A
intercalating agent
base analogues
alkylating agent
deanimating agent
oxidising agent
27
Q

Mutagens, intercalating agent and eg

A

inserts themselves in between bases
ethidium bromide
results in lose or addition in base

28
Q

Mutagens, base analogue and eg

A

incorporated into DNA
more prone to tautomeric shift
bromouracil

29
Q

Mutagens, alkylating agent and eg (2)

A

add alkyl groups to nucleobases

can also speed up nitrosamines

30
Q

Mutagens, oxidising agent just eg

A

H2O2

31
Q

physical radiation, xray, uv

A

creates free radicals

32
Q

consequences of mutagens

A
alters role of transcription
splicing errors (mutation in intron/exon)
coding regions, alter protein function