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My1 Principles > genetics > Flashcards

genetics Flashcards

1
Q

how many chromosomes does a human have

A

23 pairs = 46. 1 pair sex linked

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2
Q

what happens in mitosis (brief)

A

creates identical daughter cell

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3
Q

what happens in meiosis

A

formation of gametes - crossing over and independent assortment

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4
Q

describe RNA structure

A

single stranded, ribose backbone, uracil instead of thymine

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5
Q

describe DNA structure

A

double stranded antiparallel, deoxyribose backbone, ATCG

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6
Q

what determines protein production (4)

A

rate of transcription, rate of splicing, half-life of mRNA, rate of processing polypeptide

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7
Q

what are polymorphisms

A

any variation in human genome with a frequency of less than 1%. doesn’t cause a disease but can predispose

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8
Q

what are mutations

A

changes that cause a disorder

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9
Q

briefly outline the cell cycle

A

G1–> S–>G2–> M

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10
Q

where does DNA replication happen and therefore where mutations can occur

A

S phase

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11
Q

what is a telomere in a chromosme

A

at either end that protects against damage

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12
Q

describe the 3 components of a chromosome

A

centromere, short arm (p) and long arm (q)

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13
Q

what is an acrocentric chromosome

A

very short short arm

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14
Q

what is a metacentric chromosome

A

same length of arms

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15
Q

what is a telocentric chromosome

A

centromere almost at terminal end. ie no X shape

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16
Q

what is an aneuploidy and what are some types

A

abnormal number of chromosomes. monosomy = missing from a chromosome. trisomy = extra in a pair

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17
Q

what is robertsonian translocation

A

two acrocentric chromosomes stuck end to end - short arms normlly lost

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18
Q

what are reciprocal translocations

A

when chromosomes ‘swap’ genes

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19
Q

what are types of sequence mutations

A

SNP’s (single nucleotide polymorphisms) or deletions/ insertions which can be more serious

20
Q

what does monosomy of sex chromosomes cause

A

turner’s syndrome

21
Q

what does trisomy of 18 cause

A

edward’s syndrome

22
Q

what does trisomy of 21 cause

A

down’s syndrome

23
Q

what does trisomy of 13 cause

A

patau syndrome

24
Q

why are X trisomy better dealt with

A

x inactivation

25
Q

what does the aCGH chromosome test detect

A

deletions and duplications - not balance rearrangements

26
Q

what dies FISH show

A

fluorescence that stains chromosomes, can be used to detects aneuploidy

27
Q

what doe PCR and NGS look at

A

very small sequence changes

28
Q

what is a balanced chromosomal arrangement

A

all genetic material there

29
Q

what is an unbalanced chromosomal arrangement

A

some missing or extra

30
Q

what is a mosaic individual

A

has some mutations but seems fine

31
Q

how can mutations occur

A

parent –> child, gametogenesis, during development, mitosis

32
Q

what is a missense mutation

A

base change causing amino acid change (

33
Q

what is a nonsense mutation

A

base change results in stop

34
Q

what does mendelian inheritance encompass

A

autosomal dominant, autosomal recessive, x linked, mitochondrial. inherited disorders

35
Q

what is the penetrance of a mutation

A

the likelihood of it causing a disease

36
Q

describe the difference between autsomonal dominant and recessive

A

dominant: only 1 faulty gene is required from 1 parent to cause disease (50%) chance.
Recessive: 2 faulty genes requires (25%)

37
Q

when does x-linked occur

A

carried on X chromosome, Y is irrelevant. If mother has it and passes to boy he will be affected. If mother passes to girl 50% chance. This is due to X inactivation

38
Q

where does mitochondrial disease come from

A

mother –> child

39
Q

what does c. 9T>G. p.His3Gln mean

A

the 9th RNA base has changed from a T to a G. this has caused the 3rd amino acid to change from his to Gln

40
Q

what are non-mendelian disorders

A

mocaicism, imprinting and mitochondrial

41
Q

what is epigenetic variation and give an example

A

functional changes that occur not from DNA sequence eg methylation which inhibits DNA transcription

42
Q

what is imprinting

A

difference in gene expression depending what gene is inherited

43
Q

what do oncogenes do

A

promote cell division

44
Q

what do tumour suppressors do

A

inhibit cell division

45
Q

is cancer normally high penetrance or multifactorial

A

multifactorial

46
Q

what is the 2 hit hypothesis

A

one inherited copy of a gene and another zygotic acquired one

47
Q

when do mocaism mutations happen

A

post zygotic

My1 Principles (12 decks)

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