Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Y2 ENT > 1st & 2nd Year Genetics > Flashcards

1st & 2nd Year Genetics Flashcards

1
Q

define genotype

A

genetic makeup

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

define phenotype

A

genotype + environment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

describe the structure of a chromosome

A

central centromere, 4 chromatids (short arms and long arms), telomere cap

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

how many chromosomes are the

A

46 (23 pairs)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is an acrocentric chromosome

A

centromere at 1 end of the chromosme

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

how many acrocentric chromosomes are there in humans

A

5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what is mitosis

A

cell division forming 2 diploid cells identical to the parent cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what is meiosis

A

cell division to 4 haploid games

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what causes variation in meoisis

A

independent assortment & crossing over

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

how many base pairs are there in the genome

A

3,000,000,000 base pairs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

how many genes are the in human

A

30,000 genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what are the phases of interphase of the cell cycle

A

G1, G0, S phase, G2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what are the phases of mitosis of the cell cycle

A

prophase, metaphase, anaphase, telophase, cytokenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

define nucleoside

A

base + sugar

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

define nucleotide

A

base + sugar + phosphate group

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

define nucleic acid

A

linked nucleotides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

name the bond between adjacent nucleotides

A

Phosphodiester bond

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

where does DNA replication being

A

origin of replication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what enzyme is responsible for unwinding the DNA strand in DNA replication

A

helicase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what enzyme synthesises primers

A

primase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

what is the role of DNA polymerase in DNA replication on the leading strand

A

adds nucleotides to free 3’ end of template strand and

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

what is the role of DNA polymerase in DNA replication on the lagging strand

A

replaces nucleotides with primers on lagging strand

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

what is an oncogene

A

promote cell division

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

give 2 examples of oncogenes

A

RAS, erb-B2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

what is a tumour suppressor gene

A

inhibit cell division for DNA repair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

give 3 examples of tumour suppressors

A

p53, BRCA, Rb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

what is the promotor region

A

DNA region that initiates transcription

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

what is transcription

A

DNA -> mRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

where does transcription occur

A

nucleus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what enzyme is responsible for transcription

A

RNA polymerase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

how is transcription regulated

A

steroid hormones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

what is splicing

A

pre mRNA -> mRNA, introns removed & exons remain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

where does splicing occur

A

nucleus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

what is an intron

A

non-coding DNA/RNA segment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

what is an exon

A

coding DNA/RNA segment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

what % of the genome do exons make up

A

2-3% of genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

what is a codon

A

3 nucleotides corresponding to 1 amino acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

what is translation

A

mRNA decoded by a ribosome -> polypeptide chain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

where does translation occur

A

cytoplasm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

what enzyme is responsible for translation

A

peptidyl transferase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

what is the role of aminoacyl-tRNA synthetase

A

binds amino acids to their tRNA molecule

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

what is aminoacyl-tRNA

A

amino acid bound to tRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

give examples of post-translational modifications

A

glycosylation, degradation, disulfide bonds, cleavage, methylation, phosphorylation, folding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

where do post-translational modifications occur

A

free ribosomes in cytosol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

where do co-translational modifications occur

A

bound ribosomes on RER

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

where are proteins from post-translational modifications for

A

cytosol, nucleus, mitochondria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

where are proteins from co-translational modifications fo

A

membrane, ER, Golgi, secretion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

define mutation

A

causes a genetic disorder or heritable change

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

define polymorphism

A

variation with population frequency >1%, doesn’t cause disease but may predispose

50
Q

how many polyporphisms have been identified

A

> 10 million identified

51
Q

what does SNP stand for

A

single nucleotide polymorphism

52
Q

how many SNPs does a person have

A

3 million/person

53
Q

what is a point mutation

A

change in a single base

54
Q

what is a missense mutation

A

changes amino acid sequence

55
Q

what is a nonsense mutation

A

creates new stop codon

56
Q

does a missense mutation affect protein function

57
Q

what is the effect of a nonsense mutation

A

changes length of protein

58
Q

what is a silent mutation

A

doesn’t change amino acid

59
Q

what is the effect of a silent mutation

A

no effect on function

60
Q

what is a frameshift mutation

A

addition/deletion of a single base

61
Q

what is a null mutation

A

no effective mRNA produced

62
Q

what is a promotor mutation

A

no/reduced transcription

63
Q

what is a trinucleotide repeat expansion mutation

A

codon repeated

64
Q

what is a copy number variation

A

group term for unbalanced mutation

65
Q

what is an inversion mutation

A

segment of chromosome copied in reverse order

66
Q

what is a robertsonian translocation

A

acrocentric chromosomes stuck together

67
Q

give an example of a robertsonian translocation

68
Q

what is a reciprocal translocation

A

exchange of material between non-homologous chromosomes

69
Q

what is a balanced mutation

A

all chromosomal material present, not in correct arrangement

70
Q

what is aneuploidy

A

extra/missing chromosome

71
Q

what type of aneuploidy is better tolerated and why

A

X chromosome aneuploidy better tolerated (X inactivation)

72
Q

what is somatic mosaicism

A

different genotypes in 1 set of chromosomes

73
Q

what is a post-zygotic mutation

A

neither parent is mosaic but the child

74
Q

what genetic tests are genomewide testing

A

aCGH, exome enriched NGS, whole genome sequencing

75
Q

how many megabases are affected by chromosomal translocations

76
Q

how many megabases are affected by deletions

77
Q

how many megabases are affectd by microdeletions

78
Q

what mutations can be identified by standard karyotyping

A

aneuploidy, chromosomal translocations, deletions

79
Q

what mutations can be identified by aCGH

A

unbalanced chromosomal mutations; aneuploidy, chromosomal translocation, deletions, microdeletions

80
Q

how does FISH work

A

highlights specific chromosomes/genes

81
Q

what mutations are identified by FISH

A

small translocations, microdeletions & deletions

82
Q

what is the function of PCR

A

amplifies small genetic changes allowing it to be sequenced

83
Q

what is the process of PCR

A

Heated to 95, denatures DNA
Cooled to 55, primers anneal
Heated to 72, heat resistant Taq polymerase adds nucleotides, making 2 new identical stands

84
Q

what occurs after DNA is amplified in PCR to show where a mutation is

A

sanger sequencing

85
Q

are mendelian disorders high or low penetrance

86
Q

what are the types of mendelian disorders

A

autosomal dominant, autosomal recessive, x-linked, mitochondrial

87
Q

what is the risk of a child getting an autosomal dominant condition if 1 parent has it

A

50 percent

88
Q

what is the risk of a child getting an autosomal recessive condition if 1 parent has it

89
Q

what are consanquineous families

90
Q

how will the offspring of a man with a x-linked condition be affected

A

all males affected, females carriers

91
Q

what is heteroplasmy

A

proportion of mitochondria with mutation

92
Q

inheritance pattern of mitochondrial diseases

A

maternally

93
Q

what is x-inactivation

A

gene-dosage compensation, 1 active X chromosome

94
Q

what is a mechanism of x-inactivation

A

methylation

95
Q

are non-medialian disorders high penetrance

96
Q

what is y linked inheritance

A

non-mendelian, male, infertile

97
Q

what is a de-novo mutation

A

kid has it though parents don’t

98
Q

what is imprinting

A

variation in gene expressed depending on parents its inherited from

99
Q

give an example of imprinting and the affected gene

A

angleman syndome and chromosome 15 UBE3A gene

100
Q

what is FGFR3 achondroplasia

101
Q

what is trisomy 18

A

Edward synd

102
Q

what is trisomy 21

103
Q

what is 45X

A

Turner’s synd

104
Q

what is the presentation of turner’s synd

A

short, low hairline, heart problem, OP, hypothyroid, lymphedema, primary amenorrhea, brachdactyly, infertile, +- breast development

105
Q

what is 47XXY

A

Klinefelter’s synd

106
Q

what is the presentation of klinefelter’s

A

low testicular volume, undescended testes, infertile, gynaecomastia, intellect dysfunction, no sperm in semen

107
Q

what is the Philadelphia chromosome

A

leukaemia, translocation

108
Q

what is BRCA1

A

familial breast/ovarian cancer

109
Q

what is Von-Hippel Lindau disease

A

inherited tumour disorder

110
Q

define penetrance

A

likelihood of having disease if you have the mutation

111
Q

what is the presentation of angelman synd

112
Q

what is 4p16.3 microdeletion

A

Wolf-Hirschhorn synd

113
Q

what is Kabuki synd

A

de novo MLL2

114
Q

what test detects Wolf-Hirschhorn synd

115
Q

what test detects Kabuki synd

116
Q

what is a driver mutation

A

mutations that drive carcinogenesis

117
Q

what are pasenger mutations in cancer

A

incidental mutations since tumour is unstable

118
Q

what is the 2 hit hypothesis

A

> 2 copies of the functioning gene mutated for cancer to develop

119
Q

what is a high risk patient for breast cancer

A

BRAC1 mutation

120
Q

what is a medium risk patient for breast cancer

A

mother and sister with breast cancer age 45

121
Q

what is a low risk patient for breast cancer

A

mother with breast cancer age 70

Y2 ENT (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions