Gene Function Analysis in eukaryotes Flashcards

1
Q

What did Mendel discover

A

Genes

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2
Q

What are the advantages of using pea plants for genetic analysis

A

hermaphroditic, lots of natural variation, reproduce by self fertilisation

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3
Q

Describe the haploidy/diploidy of parents and gametes

A

Parents are diploid, gametes are haploid

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4
Q

What was Mendel’s first law

A

Principle of segregation, alleles of genes segregate during gamete formation

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5
Q

What as Mendel’s second law?

A

Principle of independent assortment, genes controlling different characters assort into gametes independently

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6
Q

Describe Incomplete Dominance

A

heterozygous phenotype is intermediate between 2 homozygous parental phenotypes

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7
Q

Example of incomplete dominance

A

Snapdragon flower, carnation flower

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8
Q

Describe co-dominance

A

simultaneous expression of two phenotypes

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9
Q

Example of co-dominance

A

blood groups

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10
Q

How are genes located on the same chromosome described

A

linked

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11
Q

How can non-parental combinations of alleles occur?

A

crossovers between chromosomes during meiosis

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12
Q

What affects the rate of recombination

A

genetic distance between genes on the same chromosome

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13
Q

If genes are close together on the same gene how common is recombination

A

very uncommon

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14
Q

How are genetic pathways analysed?

A

Complementation tests

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15
Q

Describe loss of function mutations?

A

recessive and reduce gene function

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16
Q

What do complementation tests tell us?

A

Whether two independent recessive mutations with similar phenotypes lie in the same or different genes

17
Q

Where do complementing mutations lie

A

different genes

18
Q

where do non-complementing mutations lie

A

same gene

19
Q

What can induce mutations (non-natural)?

A

X-rays, UV, chemical mutagens, and DNA mutagens

20
Q

Name two alkylating agents

A

EMS and ENU

21
Q

How do alkylating agents work

A

covalently modify DNA

22
Q

Describe the effect of alkylating agents on DNA

A

Modify guanine so its unable to bond with cytosine

23
Q

What do alkylating agents cause in non germline cells

A

tumours

24
Q

How do UV, X-rays and gamma rays cause mutations in DNA

A

induce breaks in DNA backbone, knock off electrons and break covalent bonds

25
Q

Describe the effect of UV on DNA

A

causes thymine to form covalent bonds with thymine, causes small deletions of insertions of nucleotides

26
Q

Describe genome engineering

A

targets specific genes, introduces precise changes in specific DNA sequences

27
Q

What is transgenesis?

A

Gene addition

28
Q

What is knockout

A

Complete loss of gene function

29
Q

What does gene replacement/knockout rely upon?

A

homologous recombination

30
Q

What is the function of enzymes in genome engineering

A

recombine foreign DNA into genomic DNA

31
Q

Describe zinc finger nucleases

A

Proteins that bind to specific parts of DNA

32
Q

What is the function of ZFNs?

A

create small deletions, insertions or substitutions at site

33
Q

Describe CRISPR/Cas9

A

bacterial immunity system against infectious bacterial virus genomes

34
Q

How does CRISPR/cas9 work

A

uses RNA to guide nuclease to cleave a specific DNA site

35
Q

Advantages of homologous recombination

A

very precise genome alterations like deletions, insertions and rearrangements, low frequency off target effects

36
Q

Disadvantages of homologous recombination

A

slow

37
Q

Which technique is the most precise for genome alterations

A

homologous recombination

38
Q

What are complementing mutations?

A

when different homozygous recessive mutations give the same phenotype