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Subtypes of HLA-B27: History and Implications in the Pathogenesis of Ankylosing Spondylitis

2009; Springer Nature; Linguagem: Inglês

10.1007/978-1-4419-0298-6_12

2214-8019

John D. Reveille, Rashmi Maganti,

Rheumatoid Arthritis Research and Therapies

HLA-B27 represents a family of 38 closely related cell surface proteins (encoded by the alleles HLA-B * 2701-39) called subtypes of HLA-B27, most of which have evolved from the ubiquitous HLA-B * 2705 (specifically the B * 27052 allele)., , , , , , , , , , , , , , , , , , , , , , , , HLA-B27 subtypes are largely characterized by nucleotide substitutions (mostly nonsynonymous) in exons 2 and 3 which encode α1 and α2 domains of the peptide binding groove respectively. Table 1 shows the description of sequences of HLA-B27 allele sequences. The subtypes could have arisen from B*2705 by point mutation (B*2703, B*2709, B*2704), gene conversion (B*2701, B*2702, B*2708) and reciprocal recombination (B*2707)B*2706 could have arisen by interlocus gene conversion. Studies from different parts of the world reveal differences in the population distribution.