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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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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Related Experiment Video

Updated: Oct 6, 2025

Author Spotlight: Enhancing Understanding and Treatment Strategies with the NEC-on-a-Chip Model
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Single Nucleotide Polymorphisms in Neonatal Necrotizing Enterocolitis.

Keyur T Donda1, Benjamin A Torres1, Minesh Khashu2

  • 1Department of Pediatrics, University of South Florida Health Morsani College of Medicine, Tampa, FL, USA.

Current Pediatric Reviews
|January 18, 2022
PubMed
Summary
This summary is machine-generated.

Genetic variations, specifically single nucleotide polymorphisms, may influence the risk and severity of necrotizing enterocolitis (NEC). This review examines gene variations linked to NEC and similar inflammatory bowel disorders.

Keywords:
Single nucleotide polymorphismgenetic predispositioninherited diseasenecrotizing enterocolitisneonatesspontaneous intestinal perforation

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Area of Science:

  • Genetics
  • Gastroenterology
  • Pediatric Surgery

Background:

  • Necrotizing enterocolitis (NEC) is a serious gastrointestinal condition in infants with unclear causes.
  • Emerging evidence suggests a role for genetic factors in NEC development and severity.

Purpose of the Study:

  • To review gene variations associated with necrotizing enterocolitis (NEC).
  • To explore genetic links between NEC and other inflammatory bowel disorders with similar pathology.

Main Methods:

  • Comprehensive literature search of PubMed, EMBASE, and Scopus databases.
  • Inclusion of peer-reviewed laboratory studies and existing research on gene variations.
  • Systematic keyword selection using MeSH terms and study-specific keywords to minimize bias.

Main Results:

  • Identification of specific gene variations implicated in NEC.
  • Correlation of NEC-associated genetic polymorphisms with those found in other inflammatory bowel diseases.
  • Synthesis of evidence from laboratory studies and literature review.

Conclusions:

  • Single nucleotide polymorphisms (SNPs) are potential contributors to NEC risk and severity.
  • Further research into genetic factors is crucial for understanding NEC pathogenesis.
  • Genetic analysis may offer insights into diagnostic and therapeutic strategies for NEC.