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: hnt1779@yahoo.com |
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.