A2 Flashcards

Discuss the terms SNP, CNV and Epigenetics

1
Q

Order of answer

A

Personalised nutrition definition
DNA and mRNA
SNP definition
SNP example
CNV example
CNV definition
Epigenetics definition
Epigenetics example

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2
Q

Personalised nutrition

A

Individuals characteristics are considered to produce targeted advice

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3
Q

Why personalised nutrition

A

Everyone is unique and so they require different nutritional interventions

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4
Q

Personalised nutrition characteristics to consider

A

Preference
Goal
Age
Ethnicity
Microbiome
Genotype
Phenotype

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5
Q

Genotype

A

DNA sequence an individual has

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6
Q

Phenotype

A

How genes are expressed for example through observational traits

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7
Q

DNA

A

99% of everyone’s DNA is identical
Possible to have 4 nucleotides at any given base

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8
Q

Nucleotides

A

Adenine
Cytosine
Guanine
Thymine (DNA)
Uracil (RNA)

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9
Q

Transcription

A

DNA is translated to mRNA.

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10
Q

mRNA

A

3 nucleotides make a code for an amino acid
Amino acids can have more than one code to code for them

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11
Q

Protein

A

Amino acids join together via peptide bonds to form primary structure
Then folded to get tertiary structure

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11
Q

SNP definition

A

When a nucleotide at one base is swapped for another.
For it to be a true SNP has to be in 1% of population otherwise just sporadic mutation

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12
Q

Silent SNPs

A

For many SNPs this swap will not lead to a change in amino acid so will not cause a change in structure to protein

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13
Q

Active SNP

A

Change in nucleotide causes a change in amino acid.
Leads to a change in structure which could result in a protein function being altered.
Such as active site in enzyme.

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14
Q

Issue with change in structure

A

If enzyme active sit different shape will not be able to metabolise nutrients leading to build up of toxic substrate like in PKU

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15
Q

Example of SNP

A

Aplioprotein E. If have variation 4 then have significant higher levels of LDL.
This SNP is significant in several disease progressions such as dementia ad CVD.

16
Q

AMY1

A

AMY1 codes for salivary amylase.
More code replications lead to smaller BMI.
Suggesting less leads to increased BMI leading to obesity

17
Q

Copy number variant

A

Section of DNA is repeated or deleted completely

18
Q

Deleted CNV example

A

22q11.2 - several health issues like heart defects and reduced immune response

19
Q

Epigenetics

A

Edits to phenotype above the DNA nucleotide base order.

20
Q

Epigenetic examples

A

Introns and Exons (splicing)
DNA methylation

21
Q

DNA Methylation

A

Unwinds areas of DNA so can be translated and transcribed so can be expressed.
Citrus fruit has been shown to increase the rate

22
Q

Frequency of SNP

A

85 million in total
100-300 bases