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ANCESTRAL HAPLOTYPES CARRY HAPLOTYPIC AND HAPLOSPECIFIC POLYMORPHISMS OF BAT1: POSSIBLE RELEVANCE TO AUTOIMMUNE DISEASE
Author(s) -
DegliEsposti M. A.,
Leelayuwat C.,
Dawkins R. L.
Publication year - 1992
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.1992.tb00051.x
Subject(s) - haplotype , allele , genetics , major histocompatibility complex , polymorphism (computer science) , restriction fragment length polymorphism , human leukocyte antigen , biology , gene , genotype , antigen
SUMMARY The human BAT1 gene, located in the central MHC region (–170kb centrometric of HLA‐B), is polymorphic and the polymorphism correlates with MHC ancestral haplotypes. Allelic RFLP patterns have been assigned to several ancestral haplotypes and have been shown to be ‘haplotypic’ (i.e. found on all examples of the same ancestral haplotype) and in some cases ‘haplospecific’ (i.e. unique to one ancestral haplotype). The relevance of the BAT1 polymorphism to susceptibility to Myasthenia Gravis (MG) has been investigated. The frequency of the BAT1 B allelic pattern is increased in patients with MG ( n = 16) compared to an equal number of control subjects. The increase is due to the association between MG and the 8.1 ancestral haplotype (HLA A1, C w 7, B8, BfS, C4AQ0, C4B1, DR3, DQw2).