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Cellular Genetics and the Cell Cycle > Genetic Basis of Disease > Flashcards

Genetic Basis of Disease Flashcards

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Biology 101 flashcards
1
Q

Definition single nucleotide variant

A

Difference in a single nucleotide (SNV)

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2
Q

Definition of copy number variant

A

Inversion, insertion, deletion and duplications of greater than 1000 nucleotides

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3
Q

Definition of short tandem repeats

A

Repetitive elements comprised of recurring DNA motifs of 2-6 bases
Highly prone to variation

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4
Q

Definition of indels

A

Insertion or deletion polymorphism which a sequence of nucleotides are added or deleted

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5
Q

Definition of common variants

A

Minor allele frequency >1% in population

SNP

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6
Q

Definition of rare variant

A

Minor allele frequency <1%

When pathogenic = mutation

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7
Q

Definition of epigenetics

A

Study of heritable changes in gene expression that do not involve changes to the underlying DNA sequences

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8
Q

Definition of genome wide association studies

A

Analysis of genome wide set of genetic variants in different individuals to see if any variant is statistically associated with a trait

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9
Q

Definition of genetics

A

Study of inherited variations

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10
Q

Definition of genomics

A

Study of genomes

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11
Q

Definition of functional genomics

A

Attaching information about function to knowledge of DNA sequence
Includes systematic analysis of mRNA and protein expression, explanation of gene product interactions and influence on different phenotypical traits to define gene functions

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12
Q

Definition of transcriptomics

A

Study of mRNA sequences and expression level

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13
Q

Definition of proteomics

A

Study of protein sequences

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14
Q

Definition of epigenomics

A

Study of histone modification and DNA methylation

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15
Q

Definition of cistronics

A

Study of the genetic repertoire of the binding sequences of a transcriptome factor

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16
Q

Definition of bioinformatics and biostatistics

A

Organisation, visualisation, analysis and interpretation of biological data

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17
Q

Definition of biological databases

A

Libraries of biological information, collected from scientific high-thorough experiments, published literature, computational analysis

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18
Q

Definition of stratified/personalised/precision medicine

A

Medical decisions, practises and treatments tailored to individual patient based on genomic, environmental and lifestyle information

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19
Q

Definition of conventional medicine

A

Uses same drug at same dose for all patients w the same disease

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20
Q

Definition of biomarker

A

Characteristic that is objectively measured, evaluated as an indicator of a normal biological process, pathogenic processes, pharmacogenic response to therapeutic intervention

21
Q

Definition of pharmacogenics

A

Identify responders and non responders to medication, avoiding adverse events and optimizing drug dose

22
Q

Common vs rare

A

Refers to the frequency of the minor allele in the human population

Common, minor allele frequency >1% in population, OKA SNP

Rare, minor allele frequency <1% in population
When pathogenic = mutation

23
Q

What is neutrality

A

Vast majority of genetic variants, no contribution to phenotypic variation

24
Q

What is epigenetics

A

Study of heritable changes in gene expression that do not involve changes to the underlying DNA sequence
Affects DNA methylation (cytosine), histone methylation/acetylation
Modulate DAN accessibility, regulate gene transcription

25
Q

What are the genetic disease types

A

Single gene, mutation of 1 gene (Mendelian disease)
Multifactorial, combination of environment and mutations in multiple genes (complex disease)
Chromosomal, abnormalities in chromosome structure
Mitochondrial, mutation in non chromosomal DNA of mitochondria

26
Q

Characteristics of Mendelian disease

A 
Single gene
Rare
High penetrance
Autosomal dominant, recessive, X linked
Minimal to mild environmental influences
Often gross perturbation in gene/protein function
27
Q

Characteristics of complex diseases

A 
Polygenic
Common
Variable penetrance
Variable, unclear modes of inheritance
Gene environment interactions
Minor common variations, regulatory and modifying changes
28
Q

What is cystic fibrosis and what can it lead to

A

Abnormal levels of thickened mucus to gather in the lungs and Gi tract
Leads to breathing problems, resp infections, permanent damage (fibrosis)
Can lead to malnutrition, diabetes, osteoporosis etc

29
Q

Inheritance of CF

A

Autosomal recessive

25% chance of inheriting from 2 carrier parents

30
Q

How does CF arise

A

CFTR on chromosome 7 encodes for Cl- channel
q31.2 locus
∆F508, deletion of phenylalanine
Reduces ion channel functioning, disrupting epithelial fluid transport => abnormal levels of thick mucus

31
Q

What is Hungtingtons and what can it lead to

A

Progressive neurodegenerative disorder

Leads to personality changes, chorea, dystonia, tremor, cognitive decline, depression, irritability

32
Q

Inheritance of HD

A

Autosomal dominant

Only 1 copy needed to be expressed

33
Q

How does HD arise

A

Chromosome 4, >35 CAG stutters

Inverse correlation between repeat size and age of onset

34
Q

What is genome wide association studies

A

Analysis of the genome wide set of genetic variants in different individuals to see if any variant is statistically associated with a trait
Uses micro assays and Manhattan plots

35
Q

What is psoriasis

A

Immune mediated, chronic inflammatory skin disease

Characterized by red, inflammed scaly plaques from excessive keratinocyte proliferation and immune cell activation

36
Q

Comorbidities associated with psoriasis

A

Psoriatic arthritis

obesity, CVD, IBD, depression

37
Q

How does psoriasis arise and treated

A

Interaction between genetic susceptibility, environmental triggers, immune system activation
Treated w topical/systemic immunomodulatoty drugs

38
Q

Genetics of psoriasis, pre GWAS
Population and family studies
Twin studies

A

Higher incidence in relatives vs general population and matched control subjects
High concordance rates in MZT than DZT, 66% heritability

39
Q

Genetics of psoriasis

A

Each locus contributes in small part to susceptibility

Odd ratio caries from 1:1 => 4:3 with HLA-C gene involved in immune system activation, conferring highest risk

40
Q

What has GWAS told us about psoriasis

A

Highlighted the importance of immunobiological processes involved in immune system activation (antigen presentation)
IL17 leads to production of a molecule that causes skin inflammation
New drugs target IL-17 or other proteins that favor its production

41
Q

Types of genetic analysis

A 
Genomics
Transcriptomics
Proteomics
Epigenomics
Cistronics
42
Q

What is genomics

A

Genomic DNA sequencing
Annotations

Study of gene sequences

43
Q

What is transcriptomics

A

Microarray hybridization
RNA sequencing

mRNA sequences and expression level

44
Q

What is proteomics

A

Liquid chromatography
Mass spectrometry

Protein sequences

45
Q

What is epigenomics

A

ChIP sequencing
Bisulfite sequencing

Histone modification
DNA methylation

46
Q

What is cistronics

A

ChIP sequencing

Genomic repertoire of binding sequences of a transcriptome factor

47
Q

Stratified/personalised/precision medicine

A

Medical decisions, practises, treatments tailored to individual patient based on genomic, environmental, lifestyle into
Otherwise drugs have a 24% of being unaffective
Requires identification of predictive biomarkers, stratify patients according to their theranostic biomarkers

48
Q

100000 genomes project

A

25000 cancer patients can contribute 2 genomes (own and tumor)
17000 w rare diseases + 2 blood relatives add 50000 more genomes
Sequence patients w severe infections
All genomes sequenced

49
Q

Pharmacogenics

A

Identify responders and non responders to drugs, avoiding adverse events, optimizing drug dose

Cellular Genetics and the Cell Cycle (8 decks)

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