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Brain and Behaviour > Neurgenetics > Flashcards

Neurgenetics Flashcards

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1
Q

How many pairs of chromosomes do humans have?

A

23

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2
Q

What is the structure of DNA?

A

a double helix consisting of 2 chains of phosphate and deoxyribose

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3
Q

What are the 4 nucleotide bases?

A

adenine, thymine, guanine and cytosine

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4
Q

What are the bonds between nucleotides?

A

a weak hydrogen bond

T-A and C-G

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5
Q

What are genes?

A

long sequences of base pairs in the DNA that encode proteins

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6
Q

How are genes activated?

A

by a transcription factors

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7
Q

What happens when a gene is activated?

A

the gene is transcribed into messenger RNA

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8
Q

How does a transcription factor work?

A

DNA partially unravels allowing the transcription factor to bind to the gene

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9
Q

What is transcription?

A

the genes on a DNA sequence are copied into mRNA

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10
Q

What is translation?

A

mRNA coding for an amino acid

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11
Q

What happens during translation?

A

a ribosome attaches to mRNA and reads each triplet codon

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12
Q

What is mitosis?

A

cell division creating somatic cells

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13
Q

What are somatic cells?

A

cells which are identical to the parent cell

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14
Q

What is meiosis?

A

cell division creating gametes

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15
Q

What are gametes?

A

cells which contain half the number of chromosomes as the parent cell

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16
Q

What happens during meiosis?

A

when the chromosomes have duplicated chiasma takes place and the DNA of the parent chromosomes is mixed up

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17
Q

What is the outcome of meiosis?

A

genetic diversity and offspring sharing 50% of DNA with parents (but a different 50%)

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18
Q

What is it called when the DNA gets mixed up during meiosis?

A

homologous recombination

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19
Q

What is a dichotomous trait?

A

one that only has two outcomes (no in between e.g. tall or short)

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20
Q

What are homozygous genes?

A

identical genes

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21
Q

What are heterozygous genes?

A

non-identical genes

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22
Q

What is Mendel’s Law?

A

genes can be either dominant or recessive

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23
Q

What is a dominant gene?

A

one that is carried AND expressed

24
Q

What is a recessive gene?

A

on the is carried but NOT expressed

25
Q

What is an allele?

A

a version of a particular gene

26
Q

What is Huntington’s Chorea?

A

degeneration of the brain (striatum) leading to progressive deterioration of movement, temperament and cognition

27
Q

How is Huntington’s Chorea inherited?

A

autosomal dominant inheritance; a single copy will be dominant and lead to the disease

28
Q

What genetic mutation is associated with Huntington’s Chorea?

A

An excessive repetition of CAG bases, normal has 11-34, a Huntington’s chromosome has excess of 40

29
Q

What is Phenylketonuria?

A

defect of an enzyme causing phenylalanine not to be broken down leading to learning disabilities, behavioural difficulties and epilepsy

30
Q

How is Phenylketonuria inherited?

A

recessively; both parents must be carriers to get the disease

31
Q

What is monosomy?

A

only one copy of chromosome is made leading to an early spontaneous abortion

32
Q

What is trisomy?

A

three copies of a chromosome are made leading to a very high rate of spontaneous abortion

33
Q

What can be caused by a trisomy of chromosome 21?

A

Down’s Syndrome, an over expression of certain genes causes symptoms

34
Q

Why does trisomy occur?

A

due to an error in the first meiotic division

35
Q

What does the Y chromosome code for?

A

Few genes but mostly governing male sexual function

36
Q

What is Rett Syndrome?

A

a progressive neurodevelopment disorder leading to profound mental impairment only affecting women

37
Q

What is Fragile X?

A

an inherited form of mental retardation most prevalent in males

38
Q

What causes Fragile X?

A

an excessive repeated of CGG

39
Q

When does X inactivation take place?

A

during embryogenesis

40
Q

What are epigenetics?

A

changes in an organism due to the expression of a gene rather than the genetic code itself

41
Q

What is genomic imprinting?

A

the silencing of a gene based on which parents gene is imprinted

42
Q

How are genes switched of?

A

methylation of DNA which makes it harder to unravel for transcription

43
Q

Is genetic imprinting passed on to the next generation?

A

Not always as it is reversible

44
Q

How can a silenced paternal gene become active in the next generation?

A

if it is inherited maternally then the silencing is switched off

45
Q

Which genes are active if paternal genes are imprinted?

A

maternal genes

46
Q

Which genes are active if maternal genes are imprinted?

A

paternal genes

47
Q

Where does genomic imprinting take place?

A

chromosome 15 between 4-5 million base pairs

48
Q

When can spontaneous deletion of part of a chromosome take place?

A

during meiosis

49
Q

What causes Prader-Willi syndrome?

A

the combination of paternal chromosome deletion and maternal imprinting

50
Q

What is Prader-Willi syndrome?

A

intellectual disability, decreased muscle tone, short stature, emotional lability and insatiable appetite

51
Q

What causes Angelman syndrome?

A

the combination of maternal chromosome deletion and paternal imprinting

52
Q

What is Angelman syndrome?

A

delayed development, severe language impairment, movement and balance problems, epilepsy, small head, sociable behaviour and frequent smiling

53
Q

What effect on gene expression can maternal care have?

A

maternal care switches on serotonin which affects the expression of the glucocorticoid receptor

54
Q

What has an absence of maternal care been shown to cause in rats?

A

methylation of promoters, low levels of glucocorticoid receptor, high corticosterone levels and high anxiety

55
Q

What evidence is there for transgenerational epigenetics?

A

parental environment can disrupt histones in sperm cells leading to an altered RNA profile in offspring and grand offspring

Brain and Behaviour (9 decks)

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