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Bio Psych > Neurogenetics > Flashcards

Neurogenetics Flashcards

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1
Q

what is a pecometre?

A

trillionths of a metre

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2
Q

how many pairs of nucleotides are in one’s genetic code?

A

3 billion

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3
Q

what is a genome?

A

someone’s genetic code

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4
Q

what are the building blocks of proteins?

A

methionine?

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5
Q

what are the building blocks of genetic code?

A

nucleotides or bases

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6
Q

what are the 4 different bases in DNA?

A

adenine, cytosine, guanine, and thymine

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7
Q

what are amino acids/what do they do?

A

they are the building blocks of proteins

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8
Q

what happens to proteins?

A

they are encoded by one’s genetic code

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9
Q

what constitutes the genetic code for a particular amino acid?

A

a specific sequence of 3 building blocks

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10
Q

what is gene transcription?

A

the gene is read out into a protein

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11
Q

how many bases are in the whole human genome?

A

3 billion

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12
Q

how many genes in a human code for proteins?

A

20-25 thousand

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13
Q

how do genes always pair?

A

cytosine always with guanine C-G

adenine always with thymine A-T

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14
Q

t or f, the dna helix is double stranded ?

A

true

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15
Q

What is dna bundled into in cells?

A

chromosomes

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16
Q

how many chromosomes does the human karyotype consist of? what is the make up?

A

46
22 pairs of autosomal chromosomes
two sex chromosomes

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17
Q

XX sex chromosomes are….

A

female

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18
Q

what determines how proteins interact with other proteins in the body?

A

how the proteins are folded

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19
Q

the function of a protein is determined by what?

A

its structure

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20
Q

what is the structure of a protein determined by?

A

its sequence of amino acids

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21
Q

an amino acid is represented in the genetic code by what?

A

a sequence of three bases

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22
Q

what is a sequence of 3 bases called?

A

a codon

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23
Q

true of false, each amino acid has only one codon that can represent it

A

false

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24
Q

t or f, a change to a single base in a codon cannot change an amino acid

A

false

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25
Q

what codons represent alanine, name 4

A

GCT, GCC, GCA and GCG

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26
Q

t or f, changing the amino acid cannot change the structure and function of the protein

A

false

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27
Q

what is a single nucleotide polymorphism

A

a position on the genome where the base differs between individuals or between chromosomes within same individuals

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28
Q

what are the alternative bases of an SNP called?

A

alleles

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29
Q

what is an individual’s genotype at a SNP determined by?

A

the two alleles on the two copies of the chromosome

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30
Q

what is a phenotype

A

the presence, absence or value of a trait of interest

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31
Q

what are the 4 types of structural genetic variants?

A

insertion - deletion

  • block substitution
  • inversion
  • copy number
32
Q

what happens to bases in an insertion deletion variant?

A

bases are added or are missing

33
Q

what happens to bases in an block-substitution variant?

A

multiple bases are substituted

34
Q

what happens to bases in an inversion variant?

A

bases are replaced with the reversed sequence from the other stand

35
Q

what happens to bases in a copy number variant?

A

sequence of bases are repeated one or more times

36
Q

what is a mutation?

A

something that is rare (less than 1% of alleles in pop)

37
Q

what is a polymorphism?

A

something that is common (more than 1% of alleles in pop)

38
Q

where does the gene XIST live

A

on the X chromosome

39
Q

to avoid excess dosage of x chromosome proteins in females, what happens?

A

one copy of the x chromosome in each cell is silenced or inactivated

40
Q

in many mammals, the process of silencing one x chromosome in each cell is random, true or false

A

true

41
Q

what is an RNA transcript?

A

an intermediate step in the process of converting a gene encoded in DNA to a protein

42
Q

what functionally happens when two x chromosomes are in one cell?

A

XIST gene produces RNA transcript that coats one chromosome, which is then inactivated

43
Q

what is a barr body?

A

an inactive chromosome

44
Q

what does TSIX do ?

A

produces RNA transcript that suppresses transcription of XIST

45
Q

what are antisense partners?

A

encoded by same stretch of DNA but transcribed in opposite directions

46
Q

what is the classical equation in heritability?

what do all terms refer to?

A 
P = G + E
p = phenotypic variance 
G = variance from Genes 
E = variance from environment
47
Q

what is missing from classical heritability equation?

A

variance from gene and environment interaction

and covariance between genes and environment

48
Q

what is covariance between genes and environment?

A

how some genetic variance are more likely to exist in certain environments

49
Q

what is heritability?

A

it is the proportion of phenotypic variability that can be attributed to variance from genes

50
Q

what are two key things about heritability?

A

that it is an estimate of a specific population at a specific time

51
Q

before molecular genetics, how did we measure heritability?

A

genetic epidemiology

52
Q

what does genetic epidemiology rely on?

A

the fact that related individuals share a predictable amount of genetic material

53
Q

what are concordance rates?

A

if one twin has a trait, does the other twin possess it?

54
Q

what are MZ twins, what are DZ twins?

how much genetic inheritance is shared ?

A 
MZ = monozygotic = 100% 
DZ = dizygotic = about 50%
55
Q

what do dominant traits require for expression of the phenotype?

A

mutation on one copy of the chromosome

56
Q

what do recessive traits require for expression of the phenotype?

A

mutation on both copies of the chromosome

exception, male sex chromosome as there is only one

57
Q

what can be inferred from a pedigree chart?

A

modes of inheritance

58
Q

how are males v females and affected v unaffected represented in pedigrees?

A

filled in circle = affected female
outlined circle = unaffected female
filled in square = affected male
outlined square = unaffected male

59
Q

what bases repeat in the FMRI protein?

A

CCG

60
Q

what triggers a process of methylation?

A

the large increase of the CCG repeat in the FMRI protein

61
Q

what is FMRI essential to?

A

the strength and capabilities of synapse

also its plasticity

62
Q

what is fragile x syndrome?

A

a monogenic disorder that results from a copy number variant in the 5 untranslated region of the FMRI gene

63
Q

what is a monogenic disorder?

A

a disorder that can be trace to a single gene

64
Q

what does the 5 untranslated region of a gene contain?

A

the promoter region where chemicals bind to start the process of transcribing a gene into a protein

65
Q

what are the 4 quadrants of modes inheritance using pedigree maps?

A

dominant - recessive

autosomal - x linked

66
Q

what can dominant traits not do?

A

cannot skip generations

67
Q

in recessive traits, two affected parents cannot have unaffected offspring, t or f?

A

True

68
Q

true or false, autosomal disorders are equally common in both sexes

A

true

69
Q

do sons ever receive the x chromosome from their father?

A

no they can only receive the y chromosome

70
Q

if daughter of an affected father has to be affected, what sort of trait is this?
and why is this the case?

A

x linked

because a daughter has to get her fathers X chromosome

71
Q

what is a must of an x linked recessive trait?

A

father of affected daughter must be affected

72
Q

x linked recessive disorders are more common in males or females?

A

males

73
Q

what are some monogenic disorders

A

huntington’s and fragile x syndrome

74
Q

what are polygenic disorders?

A

where there is no single gene that causes a certain disorder or influences cog outcomes

75
Q

what do genome wide association studies examine?

A

the statistical association between a phenotype and many SNP markers throughout a genome

76
Q

how many markers do GWAS typically look at

A

500,000 to 2,000,000 markers

77
Q

what does linkage disequilibrium allow?

A

allows us to observe indirect associations, allowing us to sample common variation sparsely

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