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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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OPRD1 Genetic Variation and Human Disease.

Richard C Crist1, Toni-Kim Clarke2

  • 1Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania School of Medicine, 125 South 31st Street, Room 2207, Philadelphia, PA, 19104, USA. crist@mail.med.upenn.edu.

Handbook of Experimental Pharmacology
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PubMed
Summary

Genetic variants in the OPRD1 gene are linked to opioid addiction and anorexia. One variant, rs1042114, is associated with reduced Alzheimer's disease risk by affecting beta-amyloid plaque formation.

Keywords:
AddictionAlzheimer’s diseaseAnorexiaDelta opioid receptorOPRD1

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Area of Science:

  • Genetics
  • Neuroscience
  • Pharmacology

Background:

  • The OPRD1 gene encodes the delta-opioid receptor, crucial for regulating reward pathways.
  • Over 2,000 genetic variants exist, but only two (rs1042114 and rs569356) have defined functional evidence.
  • OPRD1 polymorphisms are implicated in various human diseases.

Purpose of the Study:

  • To explore the functional roles and disease associations of OPRD1 gene variants.
  • To investigate the mechanisms underlying OPRD1 variant associations with diseases like opioid addiction, anorexia, and Alzheimer's disease.

Main Methods:

  • Review and synthesis of existing genetic association studies.
  • Analysis of functional evidence for specific OPRD1 polymorphisms (rs1042114, rs569356).

Main Results:

  • Strongest evidence links intron 1 variants (rs2236861, rs2236857, rs3766951) to opioid addiction across populations.
  • Anorexia association suggested with a haplotype block including rs569356 and rs533123.
  • rs1042114 variant allele is mechanistically linked to reduced beta-amyloid plaque production in Alzheimer's disease.

Conclusions:

  • OPRD1 variants show reproducible associations with opioid addiction and potential links to anorexia.
  • The functional mechanism for rs1042114 in Alzheimer's disease is becoming clearer.
  • Further research is needed to confirm findings and elucidate the functional significance of OPRD1 polymorphisms.