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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,...
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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...

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Related Experiment Video

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High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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HLA-B27 and its subtypes in world populations

M A Khan

    Current Opinion in Rheumatology
    |July 1, 1995
    PubMed
    Summary

    Human Leukocyte Antigen B27 (HLA-B27) is a genetic marker found across Eurasia but rare in indigenous populations of Africa, Australia, and South America. Specific HLA-B27 subtypes are associated with ankylosing spondylitis and related conditions.

    Area of Science:

    • Human Leukocyte Antigen (HLA) research
    • Immunogenetics
    • Rheumatology

    Background:

    • Human Leukocyte Antigen B27 (HLA-B27) identified as a distinct HLA specificity 25 years ago.
    • HLA-B27 exhibits a wide geographical distribution across Eurasia.
    • HLA-B27 is notably absent in genetically isolated populations of South America, equatorial/southern Africa (Bantus, Sans), and Australia.

    Discussion:

    • HLA-B27 comprises nine identified allotypes (B*2701-B*2709).
    • The association between HLA-B27 and spondyloarthropathies is a significant area of study.
    • Research focuses on understanding the genetic and environmental factors contributing to disease susceptibility.

    Key Insights:

    • Five specific HLA-B27 subtypes (B*2701, B*2702, B*2704, B*2705, B*2707) are linked to ankylosing spondylitis and related spondyloarthropathies.

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  • The geographical distribution suggests evolutionary or selective pressures influencing HLA-B27 prevalence.
  • Understanding subtype-specific associations is crucial for disease diagnosis and management.

    • Outlook:

    • Further research into the molecular mechanisms underlying HLA-B27's role in spondyloarthropathies.
    • Investigating the evolutionary history and selective forces shaping HLA-B27 distribution.
    • Exploring potential therapeutic targets based on HLA-B27 allotypes and their interactions.