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Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
TAPI polymorphisms in several human ethnic groups: characteristics, evolution, and genotyping strategies.
J Tang1, D O Freedman, S Allen
1Division of Geographic Medicine, Department of Medicine, University of Alabama at Birmingham, Alabama 35294-0022, USA. jtang@uab.edu
Human Immunology
|March 16, 2001
Summary
Genetic variations in the transporter associated with antigen processing, subunit 1 (TAP1) were analyzed across diverse populations. The TAP1*0101 allele is the most common and appears to be the newest, showing a recent widespread distribution.
Area of Science:
- Immunogenetics
- Molecular Anthropology
Background:
- The transporter associated with antigen processing, subunit 1 (TAP1) plays a crucial role in the immune system's antigen presentation pathway.
- Understanding genetic variations in TAP1 is important for studying immune responses and population genetics.
Purpose of the Study:
- To systematically investigate genetic variations within the TAP1 gene locus across different ethnic groups and compare them with chimpanzee data.
- To identify and characterize novel TAP1 alleles and their frequencies in human populations.
Main Methods:
- Genomic DNA from Caucasians, Africans, and Brazilians was analyzed.
- PCR amplification of TAP1 exons followed by single-strand conformation polymorphism (SSCP) and sequencing.
- Comparative analysis with existing chimpanzee genetic data.
Main Results:
- Six nonsynonymous and two synonymous single nucleotide polymorphisms (SNPs) were identified in TAP1.
- These SNPs defined five major human TAP1 alleles, with four matching known alleles (*0101, *02011, *0301, *0401).
- TAP1*0101 was the predominant allele across all studied ethnic groups, suggesting recent expansion.
Conclusions:
- The study characterized novel TAP1 polymorphisms and defined major human TAP1 alleles.
- The predominant TAP1*0101 allele appears to be the most recent, with a significant spread across human populations.
- A PCR-based genotyping scheme was developed for TAP1 SNP analysis.
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