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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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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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Small Circular DNAs in Human Pathology.

Stephany Carolina Barreto1, Madhuri Uppalapati1, Amitabha Ray1

  • 1Saint James School of Medicine, Albert Lake Drive, The Quarter AI 2640, Anguilla, British West Indies.

The Malaysian Journal of Medical Sciences : MJMS
|September 24, 2014
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Summary

This review explores small circular DNA, including bacterial plasmids, viral genomes, and human mitochondrial DNA (mtDNA). Understanding these molecules is crucial for diagnosing and treating various human diseases, especially cancer.

Keywords:
HPVcancerepisomesmitochondrial DNAplasmidspolyomavirus

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Area of Science:

  • Molecular Biology
  • Genetics
  • Oncology

Background:

  • Small circular DNA molecules, including bacterial plasmids and certain viral genomes, are prevalent in microorganisms.
  • Human cells contain mitochondrial DNA (mtDNA) and other extrachromosomal circular DNAs, often associated with disease.
  • Plasmids confer survival advantages, while viral DNA and mtDNA mutations link to various pathologies, including cancer.

Purpose of the Study:

  • To provide a comprehensive overview of four major categories of small circular DNA.
  • To discuss the roles of these DNA molecules in human diseases, with a focus on cancer.
  • To highlight the potential medical implications of understanding small circular DNA.

Main Methods:

  • Literature review primarily from PubMed.
  • Synthesis of information on plasmids, viral genomes, mtDNA, and other extrachromosomal DNA.
  • Analysis of the association between small circular DNA and human diseases.

Main Results:

  • Bacterial plasmids provide advantageous genes and are key in molecular biology.
  • Viral small circular DNA, such as from human papillomaviruses (HPV), is linked to cancer.
  • Mitochondrial DNA (mtDNA) mutations contribute to diseases and can serve as a diagnostic marker.

Conclusions:

  • Small circular DNA molecules, found in both prokaryotic and eukaryotic systems, play significant roles in human health and disease.
  • Further research into small circular DNA is expected to yield substantial advancements in medical diagnostics and therapeutics.
  • Understanding these diverse DNA elements is critical for addressing complex diseases, particularly malignancies.