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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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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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Mass Spectrometry: Alcohol Fragmentation01:03

Mass Spectrometry: Alcohol Fragmentation

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Alcohols (R-OH) ionize to lose one non-bonded electron from the oxygen atom, forming molecular ions. Due to their tendency to fragment rapidly, the intensity of the molecular ion peak in the mass spectrum is weak or sometimes absent. The fragmentation patterns for alcohols occur in two ways, i.e. ⍺-cleavage and dehydration. During ⍺-cleavage, the bond at the ⍺-position adjacent to the hydroxyl group cleaves to give a resonance-stabilized cation and a radical. However,...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Related Experiment Video

Updated: Sep 13, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Genome Variation in Alcohol Use Disorder by Whole-Exome Sequencing.

Lei Liu1, Bo Zhang2, Yong Dong3

  • 1Department of Psychiatry, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.

Addiction Biology
|July 29, 2025
PubMed
Summary
This summary is machine-generated.

Genetic mutations in alcohol use disorder (AUD) were identified using whole-exome sequencing. Key genes like CNTNAP3 and ESRRA showed deleterious mutations, offering potential targets for precision treatment of AUD.

Keywords:
alcohol use disorderprotein function predictionrare variantsvariantswhole‐exome sequencing

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Area of Science:

  • Genetics
  • Neuroscience
  • Pharmacology

Background:

  • Alcohol use disorder (AUD) has complex genetic and environmental influences.
  • The role of coding variations in AUD susceptibility is not well understood.

Purpose of the Study:

  • To identify genetic mutations contributing to alcohol use disorder susceptibility.
  • To explore potential therapeutic targets for AUD through genetic analysis.

Main Methods:

  • Whole-exome sequencing was performed on 83 AUD patients.
  • Exome data was compared with healthy controls from the 1000 Genomes Project.
  • Gene enrichment, protein interaction, and mutation prediction analyses were conducted.

Main Results:

  • Over 106,000 single nucleotide variants (SNVs) and 19,000 insertion/deletion (InDel) mutations were identified in AUD patients.
  • Deleterious mutations in CNTNAP3, ZNF683, ALDPH2, CCHCR1, ZNF45, and ESRRA were consistently found.
  • These genes represent potential targets for precision medicine in AUD treatment.

Conclusions:

  • Coding variations play a significant role in alcohol use disorder.
  • Specific genes like CNTNAP3 and ESRRA are implicated in AUD pathogenesis.
  • Findings may inform novel drug development strategies for alcohol use disorder.