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Neuroscience > Genes > Flashcards

Genes Flashcards

1
Q

Population genetics

A

Study of the gene pool of a population over time

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2
Q

Molecular genetics

A

Study of the molecular structure and function of genes

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3
Q

Cell cycle

A

Period between birth of a cell & its division into 2 daughter cells.

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4
Q

Prophase early

A

Mitotic spindles form from centrosomes

Chromosomes condense

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5
Q

Prophase later

A

Nuclear envelope breaks down

Chromosomes attach to mitotic spindle

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6
Q

Metaphase

A

Chromosomes line up at equator

Sisters chromatids attached to opposite poles of mitotic spindle

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7
Q

Anaphase

A
  • Cohesion between sister chromatids lost

- Chromatids segregate to opposite poles, driven by shortening microtubules

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8
Q

Telophase

A
  • Chromosomes decondense
  • Nuclear envelope reforms
  • Cytokinesis begins
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9
Q

Meiosis I

A
  • Divides chromosome pair
  • REductional division
  • 2 haploid daughter cells
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10
Q

Meiosis II

A
  • Divides sister chromatids
  • Equational division
  • 4 haploid gametes
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11
Q

Prophase I

A
  • Chromosomes condense
  • Synapsis of homologous chromosomes
  • Crossing over occurs
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12
Q

Metaphase I

A
  • Homologous chromosome pairs line up at equator
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13
Q

Anaphase I

A
  • Homologous chromosomes separate to opposite poles
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14
Q

Telophase I

A
  • Each pole has one original homologous chromosome
  • Each chromosome still consists of two chromatids
  • Cytokinesis completes meiosis I
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15
Q

At which stage of meiosis are homologous chromosomes separated?

A

Anaphase I

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16
Q

In humans, how many bivalents can be seen at prophase I of meiosis?

A

23

bivalents = haploid number

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17
Q

Mice have a diploid chromosome number of 40. How many chromatids are present at each cell at metaphase II of meiosis?

A

40 chromatids

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18
Q

Penetrance

A

Measure of the percentage of individuals with a given genotype who exhibit the expected phenotype

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19
Q

Why is the domantic white W allele epistatic to all other coat colour genes?

A

Dominant, LOF mutation in c-kit, is required for proliferation + migration of melanocytes

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20
Q

c-kit

A

Transmembrane growth factor receptor for tyrosine kinase protein

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21
Q

Expressivity

A

measure of the extent to which a given genotype is expressed at the phenotypic level

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22
Q

Transposable element

A

Piece of DNA which can move about the genome

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23
Q

Allelic variation

A

Alleles may vary in severity of phenotypes they cause, e.g. cystic fibrosis

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24
Q

How does the SRY gene confer maleness?

A

Transcription factor used to regulate gene expression necessary for testes formation.

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25
Q

Barr body

A

Inactivated condensed form of second X chromosome present in females.

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26
Q

True/False?

A linkage map is based on recombination frequencies

A

True

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27
Q

T/F?

Linked alleles stay together at meiosis

A

True

28
Q

T/F?

Unlinked genes undergo independent assortment at meiosis

A

True

29
Q

T/F?

Crossing over never occurs between linked genes

A

False

30
Q

Endosymbiotic theory explains the presence of what structures in eukaryotic cells?

A

Mitochondria and chloroplasts

31
Q

Most common type of DNA polymorphism in the human genome is

A

SNP’s

32
Q

Types of aneuploidy

A

Nullisomy
Monosomy
Trisomy
Tetrasomy

33
Q

Nullisomy

A

Loss of pair of homologous chromosomes (2n-2)

No viable birth in humans

34
Q

Monosomy

A

Loss of single chromosome (2n-1)

35
Q

Trisomy

A

One extra chromosome (2n+1)

36
Q

Tetrasomy

A

An extra pair of chromosomes (2n+2)

37
Q

How does anueploidy arise?

A

Non disjunction during meiosis

38
Q

Down syndome

A

Trisomy 21 or
Robertsonian translocation
Genetic mosaicism

39
Q

Patau syndrome

A

Trisomy 13

40
Q

Edwards syndrome

A

Trisome 18

41
Q

Robertsonian translocation

A

Can cause down syndrome

Translocation of chromosome 21 and 14

42
Q

Disorders resulting from monosomy of sex chromosomes

A

Turner’s syndrome, XO (45, X)

43
Q

Disorders resulting from trisomy of sex chromosomes

A 
Klinefelter syndrome (47, XXY)
Triplo-X (47, XXX)
XXY syndrome (47, XXY)
44
Q

Considering chromosome inactivation, why is phenotype still expressed in aneuploidy individuals?

A

Not all genes on inactive X are switched off, genes in PAR shared by X and Y arent inactivated causing greater expression.

45
Q

Pseudoautosomal region

A

Small terminal region of homologous sequences on X and Y chromosomes which pair and recombine during meiosis.

46
Q

High heritability means genetic determination.

True/False?

A

FALSE

e.g. height has increased over the population in the past 100 years, NS wont act that quickly, due to lifestyle changes

47
Q

Differences between groups for traits with high heritability are the result of genetic differences.
True/False?

A

FALSE

e.g. difference in IQ found between African Americans and White Americans isn’t necessarily due to genetic differences

48
Q

Kinetochore

A

mutiprotein complex that assembles at the centromere of a chromosome and is the site where microtubules attach

49
Q

Karyotype

A

set of chromosomes in an individual

50
Q

SRY gene

A

COnfers maleness in mammals

51
Q

Non disjunction

A

Failure of chromosomes or sister chromatids to separate properly during meiosis

52
Q

Synapsis

A

pairing of two homologous chromosomes

53
Q

Variable expressivity

A

When individuals w/ the same genetic mutation show different levels of expression of the phenotype. Can be due to effects of modifier genes that differ between individuals, or due to environmental effects.

54
Q

Endosymbiont theory

A

Hypothesis that mitochondria and chloroplasts originated as free-living prokaryotes that invaded a primitive eukaryotic cell

55
Q

cambrian explosion

A

500 mil years ago

56
Q

Fitness is

A

Measured by the number of surviving offspring produced by individuals of a specific genotype.
Average reproductive success of individuals with a specific genotype

57
Q

position cloning

A

Molecular cloning of a gene on the basis of its position on the chromosome

58
Q

recombinant type individual

A

Individual that has a non-parental combination of genetic markers as the result of crossing-over or independent assortme

59
Q

Pleiotropic

A

Genes or mutations that affect multiple phenotypes

60
Q

Epistasis

A

Interaction between two or more genes that control a single phenotype

61
Q

Genomic imprinting

A

When either the maternal or paternal allele is not expressed in the offspring

62
Q

Hemizygous

A

XY male who has one copy of a mutant allele on the X chromosome

63
Q

SNP

A

difference in one base pair at a particular site in the genome

64
Q

STR

A

site in the genome that consists of variable numbers of short repeated sequences

65
Q

Modifier genes

A

Genes which influence the expression of another.

THink epistasis

Neuroscience (22 decks)

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