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Related Concept Videos

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...
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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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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
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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...
Single Nucleotide Polymorphisms-SNPs01:05

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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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Ethnic variability of HIF-1alpha polymorphisms.

A L Ribeiro1, J Correia, V Ribeiro

  • 1Laboratory of Molecular Toxicology and Pharmacogenetics, Centre for Molecular and Structural Biomedicine, Institute of Biotechnology and Bioengineering (CBME/IBB), University of Algarve, 8005-210, Faro, Portugal.

Cancer Biomarkers : Section a of Disease Markers
|December 29, 2009
PubMed
Summary

This study reveals significant ethnic variations in hypoxia-inducible factor -1alpha (HIF-1alpha) gene polymorphisms (C1772T and G1790A). These findings highlight potential links between HIF-1alpha genetic differences and tumor aggressiveness across diverse populations.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • Hypoxia-inducible factor -1alpha (HIF-1alpha) is a key transcription factor regulating cellular responses to low oxygen conditions.
  • Specific HIF-1alpha gene polymorphisms, C1772T and G1790A, located in the oxygen-dependent degradation domain, are implicated in protein stability and the progression of hypoxic solid tumors.
  • Existing research extensively covers the impact of these single-nucleotide polymorphisms (SNPs) on cancer, yet lacks data on their interethnic variability.

Purpose of the Study:

  • To investigate the interethnic variability of the HIF-1alpha gene C1772T and G1790A polymorphisms.
  • To determine the allelic frequencies of these SNPs in distinct populations from Portugal, Mozambique, Colombia, and Guinea-Bissau.

Main Methods:

  • Genotyping analysis was performed to determine the allelic frequencies of the C1772T and G1790A polymorphisms.
  • Four distinct populations were studied: Portugal, Mozambique, Colombia, and Guinea-Bissau.
  • Statistical analysis was employed to identify significant differences in allele frequencies between the populations.

Main Results:

  • The allelic frequency of the 1772T allele varied significantly across populations: 0.122 (Portugal), 0.151 (Colombia), 0.246 (Mozambique), and 0.08 (Guinea-Bissau).
  • Statistically significant differences were found between Portuguese and Mozambican populations (p=0.020), and between Mozambican and Guinea-Bissau populations (p<0.0001).
  • The 1790A allele was detected in the Mozambican population with an allelic frequency of 0.006, but was absent in the other studied groups.

Conclusions:

  • The study demonstrates a clear ethnicity-related variation in the frequencies of HIF-1alpha gene polymorphisms C1772T and G1790A.
  • These observed genetic variations may have implications for understanding tumor aggressiveness and progression in different ethnic groups.
  • Further research is warranted to elucidate the functional consequences of these polymorphic variations in diverse populations.