A2 Flashcards
Discuss the terms SNP, CNV and Epigenetics
Order of answer
Personalised nutrition definition
DNA and mRNA
SNP definition
SNP example
CNV example
CNV definition
Epigenetics definition
Epigenetics example
Personalised nutrition
Individuals characteristics are considered to produce targeted advice
Why personalised nutrition
Everyone is unique and so they require different nutritional interventions
Personalised nutrition characteristics to consider
Preference
Goal
Age
Ethnicity
Microbiome
Genotype
Phenotype
Genotype
DNA sequence an individual has
Phenotype
How genes are expressed for example through observational traits
DNA
99% of everyone’s DNA is identical
Possible to have 4 nucleotides at any given base
Nucleotides
Adenine
Cytosine
Guanine
Thymine (DNA)
Uracil (RNA)
Transcription
DNA is translated to mRNA.
mRNA
3 nucleotides make a code for an amino acid
Amino acids can have more than one code to code for them
Protein
Amino acids join together via peptide bonds to form primary structure
Then folded to get tertiary structure
SNP definition
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
Silent SNPs
For many SNPs this swap will not lead to a change in amino acid so will not cause a change in structure to protein
Active SNP
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.
Issue with change in structure
If enzyme active sit different shape will not be able to metabolise nutrients leading to build up of toxic substrate like in PKU
Example of SNP
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.
AMY1
AMY1 codes for salivary amylase.
More code replications lead to smaller BMI.
Suggesting less leads to increased BMI leading to obesity
Copy number variant
Section of DNA is repeated or deleted completely
Deleted CNV example
22q11.2 - several health issues like heart defects and reduced immune response
Epigenetics
Edits to phenotype above the DNA nucleotide base order.
Epigenetic examples
Introns and Exons (splicing)
DNA methylation
DNA Methylation
Unwinds areas of DNA so can be translated and transcribed so can be expressed.
Citrus fruit has been shown to increase the rate
Frequency of SNP
85 million in total
100-300 bases