Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Review Article, J Genet Disor Genet Rep Vol: 2 Issue: 1

Mini Review: HLA B27 and its Immunogenetics in Ankylosing Spondylitis

Hamid Nawaz Tipu*
Classified Pathologist & Consultant Immunologist, Combined Military Hospital, KhuzdarCantt, Pakistan
Corresponding author : Dr. Hamid Nawaz Tipu, MBBS
FCPS (Immunology), Classified Pathologist & Consultant Immunologist, Combined Military Hospital, Khuzdar Cantt, Pakistan
Tel: +923335478215
E-mail: [email protected]
Received: May 14, 2013 Accepted: September 30, 2013 Published: October 07, 2013
Citation: Tipu HN (2013) Mini Review: HLA B27 and its Immunogenetics in Ankylosing Spondylitis. J Genet Disor Genet Rep 2:1. doi:10.4172/2327-5790.1000104

Abstract

Mini Review: HLA B27 and its Immunogenetics in Ankylosing Spondylitis

Human Leucocyte Antigen (HLA) B27 is one of the antigens of class I major histocompatibility complex (MHC) that has strongly been associated with development of various spondyloarthropathies [1]. The gene for HLA B27 is located on short arm of chromosome 6, at 6p21.3 [2] (Figure 1), spanning an area of 4287 base pairs (bp). It contains 7 exons and 6 introns, in addition to a TATA, a poly A and four alternate splicing signals [3] (Figure 2).Exon 1 encodes leader peptide, exon 2 and 3 encode alpha 1 & alpha 2 domains, exon 4 encodes alpha 3, exon 5 encodes the transmembrane region, and exon 6 & 7 encode cytoplasmic tail. The product of this gene is 362 amino acid protein comprising three alpha chains associated with a beta2 microglobulin chain which is encoded by chromosome 15.

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