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Genetic Polymorphism

This document defines genetic polymorphism and discusses how genetic variations like single nucleotide polymorphisms (SNPs), insertions/deletions, and copy number variations can influence individual drug responses. It provides examples of online databases like GWAS Catalog and HaploReg that contain information on genetic variations and their effects. The document also defines mutations, describing different types of mutations and their potential effects like causing silent, missense, or nonsense changes. It discusses how genetic mutations can be inherited or caused by external factors and lists some examples of genetic and genetically-influenced diseases. In closing, it notes some examples where genetic mutations confer advantages, like effects on sports performance, sleep, taste perception, bone mass, and lipid levels.

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Nabila Zain
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61 views

Genetic Polymorphism

This document defines genetic polymorphism and discusses how genetic variations like single nucleotide polymorphisms (SNPs), insertions/deletions, and copy number variations can influence individual drug responses. It provides examples of online databases like GWAS Catalog and HaploReg that contain information on genetic variations and their effects. The document also defines mutations, describing different types of mutations and their potential effects like causing silent, missense, or nonsense changes. It discusses how genetic mutations can be inherited or caused by external factors and lists some examples of genetic and genetically-influenced diseases. In closing, it notes some examples where genetic mutations confer advantages, like effects on sports performance, sleep, taste perception, bone mass, and lipid levels.

Uploaded by

Nabila Zain
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPTX, PDF, TXT or read online on Scribd
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Genetic Polymorphism

Present by Wirawan Adikusuma


Definitions
• Allele: version of a gene
 if the alleles are the same: homozygous
 if the alleles are different: heterozygous
• Polymorphism: variation within a gene that can occur among different individuals or populations
• SNP: Single nucleotide polymorphism: single base pair substitution
Genetic factor of drug response
Determinants of drug response
• Intrinsic factor
• Extrinsic factor

Example of Genetic Variation (Polymorphisms) that influence drug response


1. Single nucleotide polymorphisms (SNPs) are single nucleotide changes that happen in the
genome in a particular location. The single nucleotide polymorphism is the most common form
of genetic variation
2. Small-scale insertions/ deletions (indels) consist of insertions or deletions of bases in DNA
3. Copy number variations (CNVs), when the number of copies of a particular gene varies from
one individual to another.
GWAS Catalog
• https://www.ebi.ac.uk/gwas/
HaploReg v4.1
• https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php
DrugBank
• https://go.drugbank.com/
Identification drugs based on gene target
Mutation
• A mutation is a permanent transmissible change in DNA sequence.
• It can be an insertion or deletion of genetic information or an alteration
in the original genetic information.

Type of mutations
• Deletion: loss of a piece of DNA from a chromosome. Deletion of a gene or
part of a gene can lead to a disease or abnormality.
• Duplication: production of one or more copies of any piece of DNA, including
a gene or even an entire chromosome.
• Insertion: a type of chromosomal abnormality in which a DNA sequence is
inserted into a gene, disrupting the normal structure and function of that gene.
• Translocation: breakage and removal of a large segment of DNA from one
chromosome, followed by the segment's attachment to a different chromosome.
Effect of mutations
• Silent polymorphisms: also known
as synonymous SNP. An SNP leads to
a codon that codes for the same
amino acid.
• Missense mutation: an SNP leads to
the creation of a different amino acid
• Nonsense mutation: an SNP leads to
the appearance of a stop codon
The fact of genetic mutations
• When genetic mutations occur, the cell that houses the gene and DNA
can be damaged. When cell damage occurs widely, various body
functions will be disrupted. It causes the sufferer to get sick.
• The mutated gene can be passed down from one or both parents.
• Mutated genes are not always caused by heredity. External factors
such as viruses, radiation, UV exposure, and smoking habits can also
cause this condition.
Genetic mutations
Genetic diseases caused by gene Diseases caused by a combination of
mutations genetic and environmental mutations
• Sickle cell disease • Cancer
• Cystic fibrosis • Obesity
• Tay-Sachs • Heart disease
• Marfan syndrome • Alzheimer's disease
• Diabetes
• High blood pressure
• Arthritis
The advantage of genetic mutations
• Effect of ACTN3 Genotype on Sports Performance
• DEC2 mutation causes shorter sleep duration
• TAS2R38 bitter taste receptor
• LRP5 functions in bone to regulate bone mass
• CETP plays a significant role in high density lipoprotein (HDL)

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