Definitions Flashcards

(31 cards)

1
Q

Trait

A

Characteristic feature of an organism

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2
Q

Genotype

A

Genetic variant present at a given location in the genome

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3
Q

Phenotype

A

An individuals observational trait

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4
Q

Chromosome

A

A structure composed of DNA and proteins that bears genetic info

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5
Q

Gene

A

A section of DNA that codes for a polypeptide or RNA

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6
Q

Gene locus

A

A specific location of a gene along a chromosome

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7
Q

Allele

A

Different molecular forms of the same gene

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8
Q

Ploidy

A

Number of copies of a genome an organism has

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9
Q

Wild type

A

An allele that is common, thought of as the “default” phenotype

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10
Q

Polymorphic gene

A

Gene with multiple allele

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11
Q

Incomplete dominance

A

Heterozygotes with a blended pheontype

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12
Q

Pleiotropic allele

A

Allele with multiple phenotypic effects

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13
Q

Epistasis

A

Phenotypic expression of one gene is influenced by products of other genes

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14
Q

Penetrance

A

Proportion of individuals with a genotype that develop the expected phenotype

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15
Q

Expressivity

A

Degree to which a phenotype is expressed in an individual

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16
Q

Qualitative traits

A

Discrete qualities controlled by alleles at a single locus

17
Q

Quantitative traits

A

Show continuous variation, can be influenced by genes at many loci as well as environment

18
Q

Thomas Hunt Morgan

A

Pioneered study of fruit fly Drosophila

19
Q

Hemizygous

A

A gene that is present in a single copy in an otherwise diploid individual

20
Q

Lyonization

A

Early in embryo development, one of two X chromosomes inactivates by supercooling into Barr body. Won’t be unanimous choice between all cells in body

21
Q

DNA key features

A

• Double stranded helix
• Right handed helix
• Antiparallel
• Strands held together by complimentary base pairing
• Outer edge of bases hold major & minor groups

22
Q

Semiconservative replication

A

Each parent strand is a template, new molecules have one old and one new strand

23
Q

Mechanisms of DNA repair

A

• Proofreading
• Mismatching repair
• Excision repair
• Homologous recombination

24
Q

PCR mixture

A

• sample of double stranded DNA
• two artificially synthesised primers
• four dNTPs
• DNA polymerase
• salts & pH buffer

25
PCR process
• Denature • Annealing • Extension
26
Acquired mutations
Arise during an individuals lifetime, due to environmental impacts or age
27
Germline mutations
Inherited mutations from either sperm or egg
28
Oncogenes
Mutated genes that have the potential to cause cancer
29
Tumour suppressor genes
Normally limit how much a cell can grow
30
Transcription
Gene expression using gene as a template to synthesise DNA
31
Translation
Protein synthesis using RNA as a template to synthesise protein