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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%...
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.
Genes exist in different versions called alleles, which...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Mismatch Repair01:20

Mismatch Repair

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...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

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Related Experiment Video

Updated: Jun 24, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Copy number variation and mosaicism.

A J Notini1, J M Craig, S J White

  • 1Molecular Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Vic. Australia.

Cytogenetic and Genome Research
|March 17, 2009
PubMed
Summary
This summary is machine-generated.

Mosaicism, the presence of diverse cell types from one zygote, is more common than previously thought. Advances in detection reveal its role in diseases and somatic rearrangements.

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Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
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Detection of Copy Number Alterations Using Single Cell Sequencing
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Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Area of Science:

  • Genetics
  • Molecular Biology
  • Genomic Instability

Background:

  • Mosaicism involves cells with different genetic compositions originating from a single zygote.
  • Its impact varies with affected cell types, numbers, and specific DNA.
  • Current detection methods likely underestimate mosaicism's true frequency.

Purpose of the Study:

  • To review techniques for detecting mosaic copy number variation (CNV).
  • To explore insights into mosaicism frequencies and mechanisms from various diseases.
  • To discuss implications of CNV in identical twins and future research directions.

Main Methods:

  • Review of current technologies for mosaic CNV detection.
  • Analysis of disease-specific data on mosaicism frequencies.
  • Discussion of somatic rearrangement mechanisms.

Main Results:

  • Technological advancements improve mosaicism detection.
  • Mosaicism's frequency and mechanisms are better understood through disease studies.
  • CNV in identical twins highlights complexities of somatic variation.

Conclusions:

  • Mosaicism is a significant factor in genetic variation and disease.
  • Improved detection methods are crucial for accurate assessment.
  • Further research is needed to fully understand mosaic CNV and its implications.