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ANAT2011 - Principles of Histology > GEGE > Flashcards

GEGE Flashcards

1
Q

Haplosufficient

A

When one allele is sufficient to produce a phenotype.

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2
Q

Haploinsufficient

A

When one allele is not sufficient to produce a phenotype –> must be homozygous

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3
Q

Loss of Function Mutations

A

Null/ amorphic mutation

Leaky/ hypomorphic mutation

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4
Q

Amorphic mutation

A

Complete loss of gene function.

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5
Q

Hypomorphic mutation

A

Partial loss of gene function

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6
Q

Dominant -ve mutation

A

Mutation in polypeptide which interferes with a protein’s functioning.

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7
Q

Incomplete dominance

A

Will show a mix of the two phenotypes e.g flower colour

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8
Q

Co-dominance

A

Will should both phenotypes e.g blood type

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9
Q

Pleiotrophy

A

When a single gene affects two or more characteristics.

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10
Q

Incomplete Penetrance

A

Individual with mutant allele may not show the mutant phenotype

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11
Q

Variable expressivity

A

The extent to which the phenotype is expressed varies

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12
Q

Complementary Gene Interaction (form of epistasis)

A

Recessive mutation in two different genes acting in the same pathway produce the same phenotype
Wild type alleles for both genes need to be present for both genes to produce the wild type phenotype.

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13
Q

Duplicate Gene Interaction (form of epistasis)

A

Only homozygous mutation in both genes produce a mutant phenotype

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14
Q

Dominant Gene Interaction (form of epistasis)

A

Two genes contribute to a phenotype
Phenotype 1 = both genes have a dominant allele
Phenotype 2 = either gene is recessive
Phenotype 3 = both gene are recessive

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15
Q

Dominant Supression (form of epistasis)

A

The dominant allele of one gene supresses the phenotypic expression of alleles of a second gene

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16
Q

Dominant Epistasis (form of epistasis)

A

A dominant allele of one gene supresses or masks the phenotypic expression of alleles of a second gene.

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17
Q

Recessive Epistasis (form of epistasis)

A

Homozygous recessive alleles for one gene masks the phenotypic expression of alleles at a second gene.

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18
Q

Cell Cycle

A

Interphase -> Prophase -> Prometaphase -> Metaphase -> Anaphase -> Telophase

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19
Q

Interphase

A

Chromatin condense and transition to polar ends of the cell

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20
Q

Prophase

A

Chromosomes condense and spindles attach

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21
Q

Prometaphase

A

Nuclear membrane dissolves

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22
Q

Metaphase

A

Spindle fibres align chromosomes along equatorial plate

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23
Q

Anaphase

A

Sister chromosomes pulled apart

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24
Q

Telophase

A

Nuclear membrane reforms and cytoplasm begins to divide

25
Q

Metacentric chromosomes

A

Centromere in middle of chromosome

26
Q

Acrocentric chromosomes

A

Centromere towards one teleomere

27
Q

Telometric chromosomes

A

Centromere right at the end of the chromosome

28
Q

Aneuploidy

A

variation in chromosome dose e.g downs sydndrome

29
Q

Polyploidy

A

Variation in sets of chromosomes

30
Q

Allopolyploidy

A

Sets of chromosomes come from different species –> sterile hybrid produced.

31
Q

Haplotypes

A

A block of genes located together which are inherited together

32
Q

Tautomers

A

Alternate forms of the nucleotide bases

i.e C+A and T+G

33
Q

Indels

A

Addition or deletion of bases

34
Q

Transitions

A

Purine replaced with another purine and a pyrimidine is replaced with another pyrimidine

35
Q

Transversions

A

Purine replaced with a pyrimidine and a pyrimidine is replaced with apurine

36
Q

Silent Mutation

A

bp change –> no AA change

37
Q

Missense mutation

A

bp change –> AA change

38
Q

Non-sense mutation

A

bp change –> early stop codon

39
Q

Frameshift

A

bp deletion/addition –> alters reading frame

40
Q

Mutant Screening Strategies

A

Forward genetic screen
Genome-wide screen
Reverse genetic screen

41
Q

Forward Genetic Screen

A

Take organism -> mutate -> look at individual mutants which alter function/development

42
Q

Genome-wide screen

A

Target all of genes using CRISPR -> get mutations -> identify what gene it is based on the mutation

43
Q

Reverse Genetic Screen

A

Guess which gene is causing a mutation -> directly target that gene and mutate it -> see if the two mutations are the same.

44
Q

Genetic Variation Comes From?

A

Mutation
Sexual Reproduction
Migration

45
Q

Changes in allele frequency due to…

A

Mutation
Migration
Selection
Inbreeding

46
Q

Inbreeding depression

A

Decrease in growth, fertility and survival following inbreeding and an increase in homozygosity

47
Q

Hybrid Vigor

A

increase in vigor often after crossing inbred lines

48
Q

Qualitative Traits

A

Controlled by a few genes of large effect
Phenotype determined by simple crossing experiment
E.g eye colour in drosophila

49
Q

Quantitative Traits

A

Controlled by many gene of small effect
Environmental factors contribute to phenotype
E.g IQ

50
Q

Structural Genomics

A

Sequencing and analysis of genome infromation

51
Q

Comparative Genomics

A

Infer sequence function, understand genome evolution

52
Q

Functional Genomics

A

What genes do and their link to phenotype

53
Q

Evolutionary Genomics

A

Identifies similarities/differences between individuals/species

54
Q

Interspecific Comparison

A

Between members of the same species

Identify sequences conserved over evolutionary time

55
Q

Intraspecific Comparison

A

Identify sequence polymorphisms responsible for genetic differences between individuals

56
Q

Paralogs

A

Genes which have originated from the duplication of an ancestral gene -> functions distinct but related

57
Q

Orthologs

A

Genes in different species derived from a single ancestral gene -> have equivalent functions in different species

58
Q

Phylogenetic footprinting

A

identify conserved regions in diverse species

59
Q

Phylogenetic shadowing

A

look at sequences which have been conserved and try to determine why

ANAT2011 - Principles of Histology (4 decks)

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