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Related Concept Videos

Genetic Variation01:25

Genetic Variation

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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,...
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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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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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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...
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The Concept of Multiple Allelism
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Antigen receptors are essential components of the immune system crucial in defending the body against foreign invaders. These receptors are present on the surface of B and T cells, enabling them to recognize antigens and mount an appropriate immune response.
Before encountering any antigen, lymphocytes express these receptors. On B cells, the antigen receptor is a membrane-bound antibody molecule called BCR; on T cells, it is a T cell receptor or TCR. B and T cell receptors are composed of two...
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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Functional multigenic variations associated with hodgkin lymphoma.

Yasser Osman1, Tarek Elsharkawy1, Tariq Mohammad Hashim1

  • 1Pathology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.

International Journal of Laboratory Hematology
|July 3, 2021
PubMed
Summary

This study identified specific genetic variations linked to Hodgkin lymphoma (HL) in Saudi patients, revealing a complex genetic basis for the disease. These findings highlight the multigene causation of HL and potential genetic susceptibility factors.

Keywords:
hodgkin lymphomamicroarraymultigenic variations

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Hodgkin lymphoma (HL) presents a complex etiology with potential genetic underpinnings.
  • Understanding genetic susceptibility is crucial for comprehending HL pathogenesis.

Purpose of the Study:

  • To identify and describe genotypes associated with Hodgkin lymphoma (HL) in a Saudi cohort.
  • To explore the potential genetic susceptibility to HL in the studied population.

Main Methods:

  • Genomic DNA was extracted from 61 HL patients and 36 healthy controls.
  • Genotyping was performed using the Illumina human exome bead chip.
  • Clinical, histopathological, and laboratory data were analyzed over a 12-year period.

Main Results:

  • 35 highly significant DNA variants (P < 9.90 × 10⁻¹¹) were identified, including nine exonic variants strongly associated with HL.
  • Specific haplotypes on chromosomes 3 and 19 showed significant associations as either risk or protective factors in the Saudi population.
  • Significant associations were observed for variants in genes such as MEGF11, CACNA1I, DECR2, STAB1, ZNF526, CPLANE1, DLK1, RTN4RL2, and PGRMC1.

Conclusions:

  • Hodgkin lymphoma (HL) is characterized by genetic heterogeneity.
  • The development of HL is influenced by multiple genes, indicating a multigene causation.