Lecture 2- Neurogenetics Flashcards

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1
Q

How many pairs of chromosomes are there in humans

A

23

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2
Q

Chromosomes are present in

A

Every cell in the body

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3
Q

Natural variation in our DNA are known as

A

Single Nucleotide Polymorphisms

SNPs

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4
Q

How much of DNA is shared with others

A

99.9%

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5
Q

Mitosis produces

A

Somatic cells

Identical

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6
Q

Meiosis produces

A

Gametes

Half the number of chromosomes

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7
Q

What is homologous recombination

A

“Crossing over” of chromosomes

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8
Q

How many genes on human chromosomes

A

Approx 23000

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9
Q

Genes encode

A

Proteins

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10
Q

Genes are turned on by

A

Transcription factors

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11
Q

Transcription factors are activated during

A

Development or by intracellular signalling cascades from other parts of the cell

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12
Q

What is transcription

A

In the nucleus genes DNA sequence is copied into mRNA

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13
Q

What is translation

A

A ribosome attaches to the mRNA and moves along the mRNA reading each triplet codon and using tRNA to put together the amino acid chain to make a protein

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14
Q

What are alleles

A

Variants of a gene

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15
Q

What is Huntington’s Chorea

A
  • Degeneration of the brain leading to progressive deterioration of movement, temperament and cognition
  • Excessive repeat of CAG bases
  • Dominant inheritance
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16
Q

What is autosomal dominant inheritance

A

Single copy will be dominant and lead to the disease

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17
Q

What is Phenylketonuria

A
  • Mutation in the PAH gene
  • Affects the enzyme that breaks down phenylalanine
  • Recessive inheritance
  • Can cause learning difficulties, epilepsy
18
Q

What is monosomy

A

Single copy of a chromosome, embryonic lethal

19
Q

What is trisomy

A

Three copies of a chromosome, very high rate of embryonic lethality

20
Q

What causes Down’s syndrome

A

Trisomy in chromosome 21

21
Q

What are the symptoms of Downs syndrome

A
  • Smaller brain size frontal lobes and cerebellum
  • Mild to moderate intellectual ability
  • High risk of early onset Alzheimer’s Disease
22
Q

Characteristics of Y Chromosomes

A
  • Very few genes (smaller)

- Mostly governing make sexual function

23
Q

X inactivation ensures

A

That the dosage of active genes is maintained in all individuals

24
Q

Mutation in the gene MeCP2 turns off

A

The expression of unwanted genes during synapse formation

25
Q

Rett Syndrome is

A
  • X linked
  • Affects exclusively females
  • Mutation in the gene MeCP2
26
Q

The FMR1 gene encodes the FMR protein which is thought to

A

Shuttle select mRNAs between the cytosol and nucleus

27
Q

Fragile X is

A
  • Most common inherited form of learning disability

- Milder penetrance to females as mosaic pattern of genes

28
Q

Epigenetics

A
  • Inherited change in phenotype
  • Not due to changes in genotype
  • Not a mutation in the gene but in how the gene is read
29
Q

What happens without GR loss of feedback inHPA axis

A

Increased stress hormones, increased anxiety/ depression

30
Q

Disrupted histones in sperm cells showed

A

Altered RNA profile in offspring

31
Q

Causative genes for Alzheimer’s Disease

A
  • APP
  • PSEN1
  • PSEN1
32
Q

One SNP difference between APOE3 and APOE4 which

A

Changes an amino acid in the protein

33
Q

What is concordance

A

The degree to which a trait is seen in 2 individuals

34
Q

What genes are associated with schizophrenia

A
  • Synaptic transmission
  • Glutamate
  • Dopamine
35
Q

What are the difficulties in studying genes affecting behaviour

A
  • Defining genetic and non-genetic factors
  • Understanding interactions among factors
  • Following steps of gene expression to behaviour
  • Allowing for individual differences
36
Q

Pros of animal models

A
  • Similarity of genes
  • Can breed genetically identical strains
  • Control environmental conditions
  • Manipulate genes by removal or mutate
37
Q

Why are mice used

A
  • 99% same genes
  • Similarly organised brains
  • Lots of background info on biological processes
  • Targeted mutagenesis
  • Short life cycle
38
Q

Inbred strains allow

A

Comparison of these strains can tell us about how genetics influence behaviour

39
Q

What is transgenic mice

A
  • Reporter constructs to tag cells

- Constructs to target cell specific or time specific gene manipulations

40
Q

What are knock-in mice

A
  • Introduce a specific mutation

- Humanised mice

41
Q

What are knockout mice

A

-Absence of specific gene