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Related Concept Videos

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,...
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%...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

[Correlation between single nucleotide polymorphisms and hematological malignancies].

Pei-Pei Xu1, Bao-An Chen, Shu Cheng

  • 1Department of Hematology, Zhongda Hospital, Southeast University Clinical Medical College, Nanjing 210009, Jiangsu Province, China.

Zhongguo Shi Yan Xue Ye Xue Za Zhi
|February 9, 2010
PubMed
Summary
This summary is machine-generated.

Single nucleotide polymorphisms (SNPs) are crucial genetic markers influencing disease susceptibility and drug response. This review explores SNP research progress in hematologic malignancies, covering genes involved in carcinogen metabolism, DNA repair, and oncogenesis.

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Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Related Experiment Videos

Last Updated: Jun 16, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Area of Science:

  • Human Genetics
  • Molecular Biology
  • Oncology

Context:

  • Single nucleotide polymorphisms (SNPs) represent advanced genetic markers in human populations.
  • SNPs are fundamental to understanding genetic variation, gene function, and individual traits.
  • Hematologic malignancies are complex genetic disorders influenced by multiple susceptibility genes.

Purpose:

  • To review the current research on single nucleotide polymorphisms (SNPs) in the context of hematologic malignancies.
  • To highlight the role of SNPs in genes related to carcinogen metabolism, DNA repair, oncogenes, and drug metabolism.

Summary:

  • This review examines the significance of SNPs in hematologic malignancies.
  • It covers various gene categories, including carcinogen-metabolizing enzymes, DNA repair enzymes, oncogenes, anti-oncogenes, and drug-metabolizing enzymes.
  • The research highlights SNPs' contribution to disease susceptibility and treatment response.

Impact:

  • Understanding SNP associations can improve risk prediction for hematologic cancers.
  • This knowledge may lead to personalized medicine approaches for treating these malignancies.
  • Further research into SNPs can elucidate the genetic basis of hematologic malignancies.