Mutation Test Flashcards

1
Q

Point Mutations

A

occurs within the protein coding region of a gene classified by the effected on the resulting protein.

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2
Q

Transition

A

Exchanges a purine for a purine (A<—>G) or a pyrimidine for a pyrimidine (C<—>T)

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3
Q

Transversion

A

Less common, exchanges a purine for a pyrimidine or a pyrimidine for a purine (C/T<—>A/G)

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4
Q

Types of Point Mutations

A

Silent- Mutated codons codes for the same amino acid.
Missense- Mutated codons.
codes for a different amino acid
Nonsense- Mutated codons is a premature stop codon.

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5
Q

Reading Frame

A

A three base frame that seperates the bases into codons.

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6
Q

Deletion

A

Remove one or more nucleotide from the same DNA.

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7
Q

Insertion

A

Add one or more nucleotide from the same DNA.

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8
Q

Splice site mutation

A

Mutations in the coding region of a gene may also alter the splicing of the mRNA.

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9
Q

Frameshift mutation

A

Mutations which alter the reading Frame.

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10
Q

Homeostasis

A

the ability to maintain a relatively stable internal state that persists despite changes in the world outside.

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11
Q

Loss of function Mutation

A

result in a gene product or protein having less or no function

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12
Q

Null Allele

A

has a complete loss of function.

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13
Q

Haploinsufficiency

A

when a rudust dosage of a normal gene product

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14
Q

Gain of function

A

a gene product or protein having a new and abnormal function and usually result in a dominant phenotype

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15
Q

Dominant Negative

A

An altered product that acts in a dominant mutter to the wild type gene product in the same cell

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16
Q

DNA Repair

A

refers to a collection of processes by which a cell identifies and corrects damage to DNA

17
Q

DNA mismatch repair

A

A system for recognizing and repairing erroneous insertion, deletion and miss-incorporation

18
Q

MutH

A

cuts the DNA strand near the closest mentholated site to the mismatch

19
Q

MutSHL

A

Slides along the DNA in the direction of the mismatch

20
Q

Nucleotide extension repair

A

removes the vast majority of uv-induced DNA damage.

21
Q

Global Genomic NER

A

repairs damage in both transcribed and untranscribed DNA strand in active and inactive genes.

22
Q

Transcribed-coupled NER

A

a faster process of global genomic NER.

23
Q

Base Excision repair

A

repairs small, non helix distorting changes in the DNA

24
Q

Gene Pool

A

The combination of all genes (including alleles) present in a reproducing population in other species

25
Evolution
The process by which living organisms changes over time through changes over time through changes overtime through changes in the genome
26
Cancer
developing due to unregulated cell division
27
oncogenes
Mutations found in the DNA of cancer cells
28
Tumor- suppressor genes
In "normal" cells the products of tumor suppressor genes temporarily discourage cell growth
29
proto-oncogenes
can modify their expression and the function of the gene product.
30
gene expression
The process by which information from a gene is used to create a functional product, typically a protein
31
oncogenesis
the complex, multi-step process by which normal cells turn into cancerous cells, leading to cancer growth in the body.
32
Know the stages when gene expression can be regulated and how?
epigenetic, transcriptional, post-transcriptional, translational, and post-translational
33
What is the importance of gene regulation?
an important part of normal development.