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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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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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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Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
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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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Alternative RNA Splicing02:18

Alternative RNA Splicing

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update.

Ishfaq A Sheikh1, Ejaz Ahmad1, Mohammad S Jamal1

  • 1King Fahd Medical Research Center, King Abdulaziz University, PO Box 80216, Jeddah, 21589, Saudi Arabia.

BMC Genomics
|October 22, 2016
PubMed
Summary

Preterm birth (PTB) affects millions globally, with genetic factors like single nucleotide polymorphisms (SNPs) playing a significant role. Identifying these genetic risks is crucial for managing PTB and improving infant health outcomes.

Keywords:
GenesPreterm birthSingle nucleotide polymorphism (SNP)

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Area of Science:

  • Genetics
  • Reproductive Health
  • Genomics

Background:

  • Preterm birth (PTB) is a major global health issue, affecting 15 million newborns annually and causing over a million deaths.
  • The majority of PTBs are spontaneous, with genetic factors being significant contributors to risk.
  • Preterm neonates face higher risks of health complications, potentially persisting into adulthood.

Purpose of the Study:

  • To review studies on single nucleotide polymorphisms (SNPs) associated with preterm birth (PTB).
  • To identify candidate genes and their functional roles in PTB etiology.

Main Methods:

  • A systematic review of 92 PubMed-searched studies from 2007-2015 focusing on SNPs and PTB.
  • Comprehensive evaluation of candidate genes and their potential association with PTB.

Main Results:

  • 119 candidate genes with SNPs potentially associated with PTB were identified.
  • These genes are involved in diverse biological functions, including endocrine, tissue remodeling, vascular, metabolic, and immune/inflammatory systems.

Conclusions:

  • Candidate gene variants predispose women to PTB.
  • High-throughput sequencing methods like whole-exome and whole-genome sequencing are needed to understand PTB genomics.
  • Identifying high-risk individuals and providing personalized care are key to PTB management.