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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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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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Biological Influences on Intelligence01:30

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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Genetic Variation01:25

Genetic Variation

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.
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Principles of Pharmacogenetics: Types of Genetic Variants

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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Related Experiment Video

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Genetic copy number variation and general cognitive ability.

Andrew K MacLeod1, Gail Davies, Antony Payton

  • 1Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, United Kingdom. andrew.macleod@ed.ac.uk

Plos One
|January 10, 2013
PubMed
Summary

This study found no significant link between large, rare copy number variants (CNVs) and general cognitive ability in older adults. However, some CNV regions, like those near SHANK3, showed a potential association with fluid intelligence.

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Area of Science:

  • Human Genetics
  • Neuroscience
  • Cognitive Science

Background:

  • Human genetic variation includes differences in genomic structure, such as copy number variants (CNVs).
  • Specific CNVs are linked to psychiatric disorders and may influence intelligence.
  • Previous research suggests chromosomal deletions/duplications associated with disorders might affect cognitive abilities.

Purpose of the Study:

  • To investigate associations between large (≥500kb), rare (<1% population frequency) CNVs and fluid/crystallized intelligence.
  • To analyze CNV effects on cognition in a large, non-clinical sample of older adults.
  • To explore the impact of CNVs on general cognitive ability.

Main Methods:

  • Examined associations between large, rare CNVs and cognitive performance in community-dwelling older individuals.
  • Utilized multiple algorithms for CNV calling.
  • Assessed fluid and crystallized intelligence using a cognitive test battery.

Main Results:

  • No significant associations were found between total CNV load and intelligence.
  • Suggestive evidence indicated CNV regions near SHANK3 might be associated with fluid intelligence.
  • This study is the first to use multiple CNV calling algorithms on a large, non-clinical sample for cognitive assessment.

Conclusions:

  • Large, rare CNVs do not appear to significantly impact general cognitive ability in the studied population.
  • Specific CNV regions, such as those involving SHANK3, warrant further investigation for their role in fluid intelligence.
  • Findings contribute to understanding the complex interplay between genetic variation and cognitive function.