Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project

摘要: The human major histocompatibility complex (MHC) is contained within about 4 Mb on the short arm of chromosome 6 and recognised as most variable region in genome. primary aim MHC Haplotype Project was to provide a comprehensively annotated reference sequence single, leukocyte antigen-homozygous haplotype use it basis against which variations could be assessed from seven other similarly homozygous cell lines, representative common haplotypes European population. Comparison sequences, including four not previously analysed, resulted identification >44,000 variations, both substitutions indels (insertions deletions), have been submitted dbSNP database. gene annotation uncovered haplotype-specific differences confirmed presence more than 300 loci, over 160 protein-coding genes. Combined analysis variation datasets revealed 122 loci with coding 97 were non-synonymous. (A3-B7-DR15; PGF line) designated new sequence, has incorporated into genome assembly (NCBI35 subsequent builds), constitutes largest single-haplotype date. extensive data derived further made publicly available framework resource for future association studies all MHC-associated diseases transplant medicine.