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BIOL2202 Genetics > Module 6--Human Genetics > Flashcards

Module 6--Human Genetics Flashcards

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1
Q

What is exon skipping?

A

Creates functional proteins from faulty genes by skipping faulty codes

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2
Q

What is Huntington’s disease?

A

Autosomal dominant inheritance

  • Cause: CAG repeat leads to faulty protein
  • Repeat number is inversely correlated with age of onset (more repeats lead to early onset)
  • More CAG repeats, more polyglutamine, more toxic faulty protein in brain
  • Symptom: Progressive degeneration of nerve cells
  • Diagnosis (detection using PCR) but no cure
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3
Q

What is Down syndrome, or trisomy 21?

A

Chromosomal disorders

  • Cause: meiotic nondisjunction; an extra copy of chromosome 21
  • Crucial genes were identified (one extra copy of specific genes has an impact)
  • Some therapies are being developed
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4
Q

What is BRCA gene?

A

If you have this gene, you have a much higher change of developing breast cancer

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5
Q

What is the significance of differential diagnosis of cancer?

A

Molecular profile leads to informed treatment choice

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6
Q

What is the Beery Twin Story?

A
  • Fraternal twins struggled from birth with a host of medical problems, but no diagnosis
  • Genome sequencing found mutations on the SPR gene
  • And treatment could be prescribed
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7
Q

What are the influences of different types of genetic disease on a lifetime of an indivudal?

A
  • Chromosomal diseases are not compatible to life; often die as fetus
  • Single gene disorder has a high influence on phenotype
  • Multifactorial disease may take some time to appear
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8
Q

What is the complexity of diseases?

A

Genetic Spectrum

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9
Q

What is sickle cell anemia?

A

Recessive disorders

-Cause: single nucleotide polymorphism; a missense mutation, change the protein sequence, the mutant protein leads to the sickle-shaped red blood cells

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10
Q

How to test for sickle cell anemia?

A
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11
Q

What is cystic fibrosis?

A

Autosomal recessive disorder

  • Cause: mutations in CF gene which encodes an ion channel; defects in this ion channel cause the salt and fluid imbalances across eipthelial cell membrane
  • Symptoms: salty sweat; accumulation of mucus in lungs, pancreas, and liver; frequent respiratory infections
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12
Q

How to identify disease genes?

A
  • Old approach: positional cloning
  • Modern approach: GWAS and whole-genome sequencing
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13
Q

What is positional cloning?

A

Mapping a gene of interest precisely and searching for a clone of the gene using procedures that depend on its location in the genome

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14
Q

What is the complex inheritance of predisposition for heart disease?

A
  • Multiple loci involved
  • Family history of cariovascular disease
  • Risk of developing disease is related to the combination of allels (in multiple genes) inherited by an individual
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15
Q

What is hemochromatosis?

A

-Hereditary disease

=Excess iron in body

  • Excess iron can lead to life-threatening conditions
  • Has complex inheritance
  • Only a minority of people who have the risk alleles in implicated genes will develop serious problems
  • Symptoms appear in midlife
  • Treatment: regularly removing blood
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16
Q

How to identify implicated genes in multifactorial genetic disorders?

A

Genome Wide Association Studies (GWAS)

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17
Q

What kinds of abnormalities lead to chromosomal disorders?

A

Numerical and structural abnormalities

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18
Q

What kinds of cell do chromosome disorders occur in?

A

Germline cells or somatic cells

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19
Q

How do chromosomal disorders occur?

A

Non-disjunction in meiosis and mitosis

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20
Q

What is aneuploid?

A

An organism or cell having a chromosome number that is not an exact multiple of the monoploid, e.g. 2n+1, 2n-1

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21
Q

What is trisomy?

A

An otherwise diploid cell or organsim that has an extra chromosome of one pair (2n+1)

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22
Q

Draw a diagram representing aneuploidy and non-disjunction in meiosis

A
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23
Q

What is Turner syndrome?

A
  • Sex chromosome aneuploidy
  • XO
  • Partly or completely missing an X leading to various symptoms
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24
Q

What is Klinefelter syndrome?

A
  • Sex chromosome aneuploidy
  • XXY
  • Primary features: sterility and small testicles (maybe subtle and people don’t realize they are affected)
  • Extra copies of genes on the X chromosome interfere with male sexual development, testes function and reduce testosterone levels
  • X chromosome has Androgen Receptor (AR) gene, which is the receptor for testosterone
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25
Q

What is Triple X syndrome?

A
  • Sex chromosome aneuploidy
  • XXX
  • Females are mostly normal; some with learning disabilities
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26
Q

What is XYY syndrome?

A
  • Sex chromosome aneuploidy
  • XYY
  • Less symptoms because Y chromosome is smaller than X chromosome (less impacts)
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27
Q

What is the problem of having extra X and Y chromosomes, XXYY?

A

Extra X and Y chromosomes prevent testes from functioning normally and reduce levels of testosterone

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28
Q

What is SRY gene?

A

-Found on Y chromosome

=Testis determining factor

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29
Q

When does chromosomal changes usually occur?

A

Occur randomly during eggs and sperm formation in a parent, producing gametes with chromosome anomalies

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30
Q

What is monosomy?

A

A form of aneuploidy with the presence of only one chromosome from a pair

31
Q

What kinds of structural abnormalities can chromosomes have?

A
  • Deletions
  • Duplications
  • Inversions
  • Translocations
32
Q

Give an example of chromosome disorder caused by deletion.

A

Cri-du-chat syndrome

  • Cause: deletion of part of the short arm in chromosome 5
  • Symptoms: severe impairment and catlike crying in infancy
  • This deletion occurs most often as a random event during germline formation
33
Q

What is Copy Number Variation (CNV)?

A

-A type of structural variation in chromosome

=Duplication or Deletion event that affects a considerable number of base pairs

-Associated with both various neurocognitive diseases in humans and human evolution

34
Q

What is Attention Deficit Hyperactivity Disorder (ADHD)?

A
  • Deletion of GRM5 is exclusive to ADHD cases
  • GRMs = G-protein-coupled receptors involved in modulation of excitatory synaptic transmission
35
Q

What is chromosome translocations?

A

Change in position of a segment of a chromosome to another part of the same chromosome or a different chromosome

36
Q

Give an example of disease caused by chromosome translocations.

A

Chronic myeloid leukaemia

  • Philadelphia chromosome = result of a reciprocal translocation between chromosome 9 and 22 with breakpoints in the c-abl on chromosome 9 and the bcr gene on chromosome 22
  • Fusion gene created encodes a tyrosine kinase that promotes cancer in white blood cells
37
Q

Can a chromosomal structure diagnosis improve the prognosis of a patient?

A

No, it may not be enough, full genome sequencing is still required to figure out what gene is causing the disease

38
Q

Cancer is a _____ disease

A

genetic

39
Q

Cancer arises as a _____ _____ _____ _____

A

consequence of multiple mutations

40
Q

Cancer-causing mutations may be _____ or _____ or both

A

germline or somatic

41
Q

What are the types of cancer gene?

A
  • Oncogenes
  • Tumour suppressor genes
42
Q

What increases risk of cancer?

A

-Age due to accumulation of mutations

43
Q

How many mutations usually result in the formation of a tumour?

A

>7 driver mutations

44
Q

Most tumours display _____ _____ _____

A

significant genomic instability

45
Q

What are the types of agents of mutations?

A
  • Mutagen: causes genetic mutation
  • Carcinogen: irreversibly transforms normal cells into cancerous cells
  • Anuegen: causes changes in the number of chromosomes
  • Teratogen: causes malformation of an embryo
46
Q

Cancer results rom an accumulation of _____ and _____ gene mutations

A

germline and somatic

47
Q

Cancer is a _____ process

A

multi-step

-Multiple carcinogenic events – exposure to chemicals, radiation, viruses

48
Q

Cancer affects _____ _____ _____

A

multiple cellular pathways

49
Q

What are oncogenes?

A
  • Genes that promote conversion of a cell to a malignant state
  • Often dominant
  • Actively promote pathways that lead to tumor development
50
Q

What are tumour suppressor genes?

A
  • Prevent malignancy
  • Often recessive
  • When mutated, fail to repress pathways that lead to cancer
51
Q

What happens when tumor suppressor genes are mutated?

A

A predisposition to develop cancer often follows a dominant pattern of inheritance

52
Q

What mutation usually occur in tumor suppressor gene?

A

Loss-of-function mutation

53
Q

Mutation in tumor suprressor gene does not cause cancer to develop, what else need to happen in order for cancer to develop?

A

A second mutation in somatic cells knocking out the function of the wild-type allele

54
Q

What kind of mutation occur in tumor suppressor gene?

A

Germline mutation

55
Q

What somatic mutations can occur in cancer genes?

A
  • Point mutation
  • Small insertions or deletions (indels)
  • Gene amplification
  • Gene deletion or duplication and CNVs
  • Chromosome rearrangements
56
Q

What mutations may activate oncogenes?

A
  • Point mutations
  • Small insertions or deletions (indels)
  • Gene amplifications
  • Chromosome translocations
57
Q

What mutations may inactivate tumor suppressor genes?

A
  • Point mutations
  • Small insertions or deletions (indels)
  • Gene deletions
58
Q

Each tumor generally contains a _____ set of _____ _____

A

different set of genetic lesions

59
Q

What are the purposes of illustrating genomic lanscape of cancer?

A
  • Identify common gene mutations
  • Profile genetic signatures for specific types or stages of cancer
60
Q

Transcript profiling of cancer can enable _____ _____

A

differential diagnosis

61
Q

What treatment is avaialbe for chronic myeloid leukaemia?

A

Gleevec, a specific drug that targets the pathway activated by the fusion protein and stops tumour from growing

62
Q

What treatment is available ofr melanoma?

A

B-Raf inhibitors

63
Q

What is the goal of isolating human disease genes?

A

Having better diagnostics and clinical outcomes

64
Q

What is Genome-wide Association Study?

A
  • Complex traits –> multiple genes
  • Genetic markers across the genome (50,000 to 1 million SNP, mostly SNPs)
  • Discover significant SNP (risk alleles associated to disease)
  • Starting point to map disease genes
65
Q

What is Manhattan plot?

A

It is commonly used in genome-wide association studies (GWAS) to display significant SNPs

66
Q

What is Next Generation Sequencing (NGS)?

A
  • A DNA sequencing technology which has revolutionised genomic research
  • Can sequence an entire human genome within a single day
67
Q

What is bioinformatics?

A

=Study of genetic and other biological information using computer and statistical techniques

  • It is used to compile and analyze biological data
  • It can be used to predict biological experiments = in silico experiments

=Application of computational tools to solve biological questions

68
Q

Bioinformatic approaches can be used to determine:

A
  • If the sequence similar is to other known genes
  • If the sequence contain ‘sequence motifs’ that are found in other disease genes
  • If the sequence, or regions of the sequence, evolutionarily conserved (if highly conserved, have significant role in physiology/metabolism)
  • Gene expression and co-expression (gene networks)
  • Functional Genomics
69
Q

What techniques determine where and when a gene is expressed?

A
  • RNA analysis
  • Protein analysis
70
Q

What technique determines where and when a gene’s promoter is active?

A

Reporter assays

71
Q

What is Green Fluorescent Protein used for?

A

GFP is used to determine where and when a gene’s promoter is active

72
Q

What are transgenic mice used for and how?

A

They are used to visualize when and where genes are expressed:

  • which cells/tissues
  • what developmental time point

How:

  • In transgenic factors, endogenous protein coding sequences are replaced by sequences encoding the EGFP reporter gene
  • Mice express a reporter gene in the same environment as the native gene

–> study cell migration and development

–> isolate specific cells using flow cytometry

–> target cells for electrophysiology

–> evaluate drug treatments

73
Q

What is RNA interference?

A

=Blocking gene expression with double-stranded RNA

-Can be used to dissect biological processes by inhibiting the functions of specific genes

74
Q

What are the clinical applications of analysing other part of human genome?

A

Using genome level data for:

  • Disease management
  • Personalized diagnosis and treatment
  • Early diagnosis
  • Gene therapies

BIOL2202 Genetics (6 decks)

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