Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MEDSCI 203 > Genetic Disease > Flashcards

Genetic Disease Flashcards

1
Q

What is Pathology?

A

Study of Disease

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

What is Morbid anatomy?

A

Large scale overview analysis of organs and visible disease. Diseased organs and tissues

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

What is Cellular / Histopathology?

A

Cellular level - microscopic study - histology - tissues, cytology - cells

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

What is molecular pathology?

A

Analysis of molecules and pathways within the cells - Application of molecular biology. Analysis of DNA, RNA, Protein, Lipids, sugars, metabolites

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

What is the Anatomical pathology?

A

Clinical pathology - macro and micro study. Observational

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

What is Aetiology?

A

Cause or origins of disease

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

What is pathogenesis?

A

The mechanism of disease development

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

Cyto means

A

cells e.g cytotoxicity

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

Dys means

A

Disordered eg dysplasia

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

Hyper means

A

More than normal eg hyperplasia

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

Hypo means

A

Less than normal eg Hypothyroidism

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

Leuko means

A

White e.g leukocyte

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

Meta means

A

A change of one state into another eg metaplasia

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

Neo means

A

New eg neoplasia

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

aemia means

A

Relating to the blood eg anaemia

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

cytosis means

A

Increase number of cells (in blood) leukocytosis

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

itis means

A

an inflammatory process eg appendicitis

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

oid means

A

Having resemblance to something eg epitheliod

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

oma means

A

Swelling or growth eg atheroma

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

opathy means

A

a diseased state eg adenopathy

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

osis means

A

a state or condition eg acidosis

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

penia means

A

a lack of something eg lymphopenia

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

plasia means

A

a disorder of growth eg anaplasia, metaplasia

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

Crohn’s Disease

A

Inflammatory Bowel Disease

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

Crohn’s Disease - histology

A

Disruption to organised epithelial structure - repeated inflammation / chronic

Formation of granulomas - areas of cell death, large scale cell death or necrosis

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

Aetiology of Crohn’s Disease

A

Genetic Susceptibility e.g Inherited genetic variants in NOD2

Gut flora/microbiota e.g Altered communities of commensal microbes

Environmental Factors e.g diet, NSAIDs, tobacco, increased hygiene

Host Immune Response e.g Overactive TH1 cells, underactive Treg Cells

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

Pathogenesis of Crohn’s disease

A
  1. Environmental trigger: infection, NSAID -> mucosal damage
  2. Damage/bacterial invasion -> acute inflammation and healing
  3. Genetic deficiency in innate immunity or barrier function genes -> unable to repair damage or kill invading microbes
  4. Uncontrolled immune responses to bacteria damage colon wall -> chronic inflammation and persistent infection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Genetic factors in disease of Crohn’s disease

A

Increased recognition of inheritance of gene(s) which predispose towards disease or modifies disease

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

What is Cystic Fibrosis?

A

Autosomal disorder
Mutation in CFTR gene
Thick mucous secretions - recurrent chest infection, lung damage

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

Environment factors in disease (Asbestosis)

A

Work related exposure to asbestos fibres, lung and pleural fibrosis. Mesothelioma (a malignant tumor of the mesothelium)

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

Cells respond to insult via…

A

Degeneration and atrophy
Apoptosis and necrosis
Inflammation
Regeneration, hyperplasia, hypertrophy
Dysplasia and neoplasia
Structural changes - gross changes, microscopic

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

Study of the disease process technique

A

Investigation of a mass/abnormal tissue or organ. -> Fine needle aspiration of biopsy tissue (retains architecture of cells)

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

Antigen expression

A

Stain tissue with labelled antibodies. Flow cytometry

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

Molecular genetic studies

A

Karyotype, FISH, DNA sequencing

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

Breast cancer pathology

A

Over expression of HER-2 protein -> Target of the monoclonal antibody - Antibody Herceptin

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

Her2 and Herceptin

A

Genetics: Her2 is a proto-oncogene. Her2-activated mechanisms of tumour cell growth

Pathology: Activation of Her2 in some breasts tumours. Identification of which patients are suitable for herceptin treatment since their tumours have Her2 gene amplification

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

Targeting therapy to a specific mutation in melanoma

A

B-RAF mutations in 50% of melanoma patients. B-RAF is a potent tyrosine kinase. Vemurafenib is a selective inhibitor of mutant B-RAF

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

What are pseudogenes

A

Genes that appear like they are genes for typical functional proteins but in fact code for non functional proteins

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

What advantage does polymerase chain reaction have over cloning?

A

It allows DNA to replicated much faster

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

Other than they typical Polymerase Chain reaction, what are the 2 other types of PCR and what are their advantages?

A

Reverse Transcriptase PCR which extracts RNA and then converts it to cDNA viathe reverse transcriptase enzyme allowing it to be determined what genes are actually being expressed in a tissue

Real time PCR, this involves the use of a marker allowing you to track the amount of DNA strands made which in turn allows you determine the amount of starting material which means you can gather some information about the gene expression in the tissue

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

What are the 3 steps in PCR

A

Denaturation, Anealing primers, DNA synthesis

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

What is the most important factor in the denaturation phase?

A

The temperature to which the solution is raised too must be determined by the enzyme used. 94-98C

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

What is the factor that needs to be regulated closely in the annealing phase?

A

The lowering of the temperature otherwise, the primers may join to sections of the DNA other than the target sequence resulting in the replication of unwanted material. 55-70C

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

What factor must be tightly controlled in the DNA synthesis phase of PCR?

A

The time allowed for elongation as this will control the length of the DNA fragment produced. 65-72C

45
Q

What are the three types of Gel Electophoresis?

A

Polyacrylamind Gels, Agarose Gel, Pulse-field Gel Electrophoresis

46
Q

What type of Gel electrophoresis uses single stranded DNA of less that 500 nucleotides?

A

Polyacrylamid Gels

47
Q

What type of Gel electrophoresis is used for long DNA strands?

A

Pulse field gel electrophoresis

48
Q

What is the name of the special nucleotides used for DNA sequencing?

A

Dideoxynucleotides

49
Q

What 6 molecular techniques rely highly on hybridisation?

A

Dot Blot, Southern Blot, FISH, SNP arrays, Microarray, Array CGH

50
Q

What is the purpose of FISH?

A

To identify potentially harmful mutations that have occured in the cell such as deletions

51
Q

What are SNP arrays used for?

A

To look for point mutations in order to examine the relationship between this mutation and the observable phenotype

52
Q

What is a microarray?

A

A microarray is a slate with lots of slots of immobilized known DNA sequences in the form of single stranded molecules, this then allows sample DNA to be washed across the slate so complementary basepair binding will be able to determine if any of the sequences are present

53
Q

What is array CGH used for?

A

Creation of a karyotype for chromosomal analysis

54
Q

What is the western blot (immunoblotting)

A

involves detection of polypeptides after size-fractionation. Size and amount but not location

55
Q

What is the function of an Immunoassay?

A

Where antibodies are used to determine the quantity of a specific protein in a cell

56
Q

What is Immunohistochemistry?

A

A test using immunoglobulins to check for the genexpression of the proteins in the cell

57
Q

What is a GWAS

A

Genome wide association study - looks at thousands of nucleotide variants at once

58
Q

What is an aCGH used for?

A

Used to scan a complete genome for imbalances. Can simultaneously detect aneuploidies, deletions and duplication.

59
Q

What is a De Novo mutation?

A

Variation in DNA sequences results as a result of new mutations

60
Q

What are the two main causes of mutations?

A

Endogenous mutations and mutagens

61
Q

What is an endogenous mutation?

A

A mutation which is caused due to spontaneous errors in DNA replication and repair

62
Q

What is a mutagen?

A

A chemical that induces damage to damage to DNA causing mutations to occur

63
Q

What are the three types disorders that can arise from mutations?

A

Single gene disorders
Chromosome disorders
Complex/multi factorial disorders

64
Q

What are the 6 types of chromosomal mutations?

A

Translocations,
Deletions,
Inversions,
Chromosome loss
Chromosome duplication

65
Q

What are the two classes of substitution mutations?

A

Transition mutations and transversion mutations

66
Q

What is a transition mutation?

A

When a purine is exchanged for another purine (A with G), or a pyrimidine is exchanged with another pyrimidine (C with T)

67
Q

What is a transversion substitute mutation?

A

When a purine is replaced by a pyrimidine or vice versa (A to C) or (G to T) etc

68
Q

What is the hotspot that differs from theoretical predictions of transversions being more common?

A

C to T mutation. Triggered by UV damage in cancer

69
Q

What ate the three effect based classifications of substitution mutations?

A

Silent mutations,
Nonsense mutations,
Missense mutations

70
Q

What is premature protein truncation?

A

When the effect of a mutation results in a stop codon appearing earlier than it should resulting a shortened protein that may or may not be functional

71
Q

What are the two types of Missense mutations?

A

Synonymous where a similar type of amino acid is replaced resulting in little effect on function
Non-synonymous where the amino acid replaced is dissimilar so a serious effect on function can occur

72
Q

Where are the three regions where pathogenic mutations occur?

A

The coding region
Areas affecting gene regulation
Mutations affecting RNA stability of splicing

73
Q

What is a frame shift mutation?

A

When an insertion or deletion of a base pair results in a change in the reading frame usually causing premature truncation and severe deleterious effects

74
Q

What are the three factors that affect the phenotype seen from a premature truncation?

A

The stability of the polypeptide product
The extent of truncation
The functional importance of the missing amino acids

75
Q

What are the inheritance features of an autosomal recessive disease?

A

The carriers are asymptomatic, typically not seen in parents, males and females equally affected
Risk 1:4

76
Q

What are the inheritance features of an Autosomal Dominant Disease?

A

Phenotype typically appears in every generation, Risk 1:2 at least one parent will display the phenotype

77
Q

What are the inheritance features of a recessive x-linked disease?

A

Sons only inherit this from the mother, A male will pass on condition to all daughters, the incidence of disease is much higher in males
Disease is milder in women due to random X inactivation

78
Q

What are the inheritance features of a dominant x-linked disease

A

Male parents have no affected sons but all daughters affected
Females typically have a less severe disease
More common for females to have the disease

79
Q

What are the inheritance features of a Y linked dominant disease?

A

Disease can only pass from male to male
Only males are affected
All sons of affected male are affected

80
Q

Trisomy 13-Patau Syndrome

A

3 chromosome 13. 95% of cases initiate a miscarriage. Dysmorphology, seizures, disability

81
Q

Numerical abnormalities - Aneuploidies

A

Meiotic disjunction at Meiosis II (A) or Meiosis I (B)

82
Q

Cri Du Chat syndrome or 5P monosomy

A

Monotone, small head, high palate, low ears, round ears.

83
Q

Structural abnormalities of chromosomes

A

Due to errors in cell division when chromosomes align. Homologous recombination frequently causes deletions and duplications. A severe phenotype if multiple genes are involved.

84
Q

Mutation in coding region

A

Majority of recorded pathogen mutations. Mutations disrupting RNA stability or splicing

85
Q

Mutations affecting gene regulation or dosage

A

Promoter/enhancer region mutations - 1% of total.

86
Q

What are the three types of genetic testing

A

Direct testing, Cytogenetic testing, Biochemical testing

87
Q

What is direct testing?

A

Looking at the DNA or RNA that makes up a gene

88
Q

What is a Cytogenetic test?

A

When the chromosomes are examined

89
Q

What is biochemical testing?

A

When you assay for particular metabolites

90
Q

What are the two uses of genetic testing?

A

Diagnostic and Predictive

91
Q

What is the purpose of predictive testing?

A

So that potentially life style changes can be made in order to improve the health outcome

92
Q

What are the two forms of genetic heterogeneity?

A

Locus Heterogeneity and Allelic heterogeneity

93
Q

What is locus heterogeneity?

A

When multiple mutations can cause the same phenotype from different loci

94
Q

What is allelic heterogeneity?

A

many mutations within the same gene can result in similar phenotypes

95
Q

What is the concept of penetrance?

A

How likely it is that the gene will result in a phenotype as it can vary dramatically between individuals

96
Q

What is expressivity?

A

The idea that a gene will manifest itself in different ways between individuals even if the gene is identical

97
Q

What is the process of Prenatal Diagnosis?

A

when chromosomal and genetic analysis is achieved through either culturing cells from amniotic fluid or through analysis of hormones or proteins in the mothers blood etc

98
Q

What are the non-invasive prenatal diagnostic methods?

A

Maternal Serum alpha-fetoprotein,
Maternal serum screen,
Ultrasonography

99
Q

What does Maternal Serum alpha-fetoprotein test for?

A

Tests for levels of AFP which are elevated in neural tube defects and reduced in downs syndrome

100
Q

What does the maternal serum screen test for?

A

AFP to detect neural tube defects (rise)/ downs syndrome (fall)
High levels of hCG and inhibin A are seen in downs syndrome
Oestriol is low in downs syndrome

101
Q

What are the two methods of invasive prenatal diagnosis?

A

Amniocentesis

Chorionic Villus Sampling

102
Q

How does the test of amniocentesis work?

A

A small amount of amniotic fluid is collected for studies

103
Q

How does Chorionic Villus Sampling work?

A

Biopsy is performed on the villus area of the chorion either transabdominally or transcervically

104
Q

What is the advantage of chorionic villus sampling as opposed to amniocentesis?

A

Results can be obtained at an earlier date

105
Q

What is pre implantation diagnosis?

A

Several embryos are cultured and then are tested through FISH and other genetic techniques and only those found without mutations will be implanted

106
Q

What are the two key things required to prove that a gene is linked to a disease?

A

Mutation screening and Functional proof

107
Q

What is mutation screening?

A

Failure to notice the gene in a large sample of controls

The gene can be observed with a clear and relevant inheritance pattern in a pedigree chart

108
Q

What is functional proof with regards to linking a gene to a disease?

A

There must be proof thorugh things such as computer modelling that the change the mutation has on the final product is important or relevant with regards to the original proteins function

109
Q

What is the only currently avaliable treatment for those with genetic diseases

A

Primary prevention where changes in lifestyle or potentially some drug treatments may prevent onset of the disease

MEDSCI 203 (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions