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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.
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Infinium Assay for Large-scale SNP Genotyping Applications

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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.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Published on: June 21, 2018

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.