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BMS109 Pathobiology > Genetic Basis of Disease > Flashcards

Genetic Basis of Disease Flashcards

1
Q

What did Garrod do

A

founder of human biochemical genetics

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2
Q

What causes alkaptonuria

A

defect in enzyme homogentisate 1,2 deoxygenase

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3
Q

What are the symptoms of Alkaptonuria

A

kidney stones, black urine, joint pain

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4
Q

How is alkaptonuria inherited

A

autosomal recessive

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5
Q

Name some metabolic inborn errors

A

cystinuria, phenylketonuria, albinism

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6
Q

What did Bateson do

A

Worked with punnet square to catalogue human disorders

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7
Q

Name the Mendelian patterns of inherited human disease

A

autosomal recessive, autosomal dominant, X-linked

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8
Q

Name some autosomal recessive diseases

A

alkaptonuria, cystic fibrosis

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9
Q

Name some autosomal dominant diseases

A

brachydactyly, huntingtons

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10
Q

Name some X-linked diseases

A

Duchenne muscular dystrophy, haemophilia, X-linked mental retardation

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11
Q

Who mainly inherits X-linked disease and why

A

males - only one X chromosome

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12
Q

What mutation causes sickle cell anaemia

A

single point missense mutation - beta subunit

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13
Q

What is the effect of sickle cell anaemia on RBCs

A

causes misshaping & forming of large insoluble polymers

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14
Q

What type of mendelian inheritance is Sickle cell anaemia

A

Co-Dominance

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15
Q

What is an advantage of being heterozygote for sickle cell anaemia

A

resistant to malaria

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16
Q

Example of Co-Dominance

A

sickle cell anaemia, AB blood type

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17
Q

Examples of incomplete dominance

A

pink snapdragon

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18
Q

Describe co-dominance

A

heterozygotes express both alleles simultaneously without any blending

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19
Q

Describe incomplete dominance

A

both alleles are partially expressed – intermediate phenotype

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20
Q

How is anirida inherited

A

autosomal dominant

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21
Q

What causes Anirida

A

deletion or loss of function point mutations in one copy of the gene

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22
Q

What chromosome does anirida effect

A

chromosome 11

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23
Q

What is the symptom of anirida

A

lack of an iris

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24
Q

What does karyotyping enable

A

genes to be mapped to specific chromosomal locations

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25
Q

How did karyotyping allow identification of disease

A

abnormalities in banding patterns due to mutations could be recognised

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26
Q

How is Duchenne muscular dystrophy inherited

A

X-linked

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27
Q

What chromosome is affected by Duchenne muscular dystrophy

A

chromosome X

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28
Q

What are the symptoms of Duchenne muscular dystrophy

A

progressive muscle damage and wasting disease

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29
Q

What protein is affected by Duchenne muscular dystrophy

A

Dystrophin

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30
Q

What is the function of dystrophin

A

crucial for muscle integrity

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31
Q

What does dystrophin connect

A

muscle fibres to ECM

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32
Q

How is Huntington’s disease inherited

A

autosomal dominant

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33
Q

Describe Huntington’s disease

A

progressive neurodegenerative disorder

34
Q

What area of the brain is affected in Huntington’s

A

basal ganglia and lateral ventricles

35
Q

How are the areas of the brain affected in Huntington’s

A

basal ganglia exhibit neuronal loss and lateral ventricles dilate

36
Q

What disease can Huntington’s cause

A

dementia

37
Q

What are the symptoms of huntingtons disease

A

loss of movement

38
Q

What mutation causes Huntington’s

A

expansion of repeat sequence of CAG

39
Q

What does expansion of repeat sequence of CAG cause

A

long stretch of glutamine which is toxic to neurons

40
Q

What gene & protein is affected by Huntington’s

A

Huntingtin

41
Q

What causes glutamate expansion

A

mistakes during DNA synthesis

42
Q

What did Peyton Rous discover

A

tumour causing virus

43
Q

Describe the genomes of viruses

A

small and efficient

44
Q

Why does Rous sarcoma virus cause tumours

A

presence of DNA sequences from the chicken genome

45
Q

What DNA sequences cause tumours in the Rous Sarcoma virus

A

v-src oncogene

46
Q

What does the v-src oncogene encode

A

abnormally hyperactive tyrosine kinase

47
Q

What is src

A

kinase involved with cell proliferation

48
Q

What do viruses contain

A

oncogenic mutant version of host cellular proto-oncogenes

49
Q

Describe the mutations that give rise to viral oncogenes

A

dominant, gain of function

50
Q

What causes the philadelphia chromosome

A

recombination between chromosome 22 and 9

51
Q

What genes fuse in the philadelphia chromosome

A

BCR & ABL

52
Q

What is the effect of fusion between BCR & ABL

A

lack of regulation of ABL

53
Q

What is ABL

A

potential oncogene

54
Q

What does ABL encode

A

abnormally hyperactive version of tyrosine kinase

55
Q

What do loss of function mutations in tumour suppressor genes cause

A

tumour growth

56
Q

Describe non-hereditary retinoblastoma

A

unilateral

57
Q

Describe hereditary retinoblastoma

A

bilateral

58
Q

What causes hereditary retinoblastoma

A

inactivation of both alleles of a tumour suppressor gene

59
Q

What causes non-hereditary retinoblastoma

A

have to acquire two somatic mutations in the same retinal cell

60
Q

What mutations cause cancer?

A

dominant, gain of function mutations in proto-oncogenes, recessive lost of function mutations in tumour suppressors

61
Q

What are chronic diseases caused by

A

multiple genes

62
Q

What are SNPs

A

single nucleotide polymorphisms

63
Q

What are SNPs used for

A

mapping genes as DNA markers, genome wide association studies

64
Q

What are single nucleotide polymorphisms

A

random mutations outside of a gene

65
Q

What are genome wide association studies

A

studies that compare SNPs from healthy vs diseased individuals

66
Q

What is the Manhattan plot

A

summarises results of GWAS for SNPs associated with disease

67
Q

What are genomic imprints

A

structural modifications to specific genes - prevent transcription

68
Q

How are DNA methylation patterns re-applied

A

pattern dependant on sex of embryo

69
Q

What is a hallmark of imprinted chromatin

A

methylation on cytosine bases in CpG dinucleotides

70
Q

What does imprinted chromatin do

A

switches genes OFF

71
Q

How does imprinted chromatin switch genes off

A

recruits transcriptional repressors

72
Q

How do we inherit an imprinted gene

A

inherit only one working copy of the gene

73
Q

What imprint does UBE3A carry

A

paternal imprint

74
Q

What imprint does SNORD116 carry

A

maternal imprint

75
Q

When are imprints created

A

gametogenesis

76
Q

When are imprints erased

A

embryonic precursors of germ cells during embryonic development

77
Q

When are imprints re-established

A

spermatogenesis/oogenesis depending on sex of offspring

78
Q

What causes Angelman syndrome

A

mutation in UBE3A

79
Q

What are the symptoms of Angelman syndrome

A

cognitive disability, sleep disturbance, smiling, seizures

80
Q

What causes Prader-willi syndrome

A

Mutation in SNORD116

81
Q

What are the symptoms of Prader-Willi syndrome

A

cognitive disability, obesity, hunger, low muscle tone

82
Q

What is the term for impacts of genomic imprint

A

parent-of-origin specific

BMS109 Pathobiology (11 decks)

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