![]() ![]() Combined analysis of the variation and annotation datasets revealed 122 gene loci with coding substitutions of which 97 were non-synonymous. The gene annotation uncovered haplotype-specific differences and confirmed the presence of more than 300 loci, including over 160 protein-coding genes. ![]() Comparison of the haplotype sequences, including four haplotypes not previously analysed, resulted in the identification of >44,000 variations, both substitutions and indels (insertions and deletions), which have been submitted to the dbSNP database. The primary aim of the MHC Haplotype Project was to provide a comprehensively annotated reference sequence of a single, human leukocyte antigen-homozygous MHC haplotype and to use it as a basis against which variations could be assessed from seven other similarly homozygous cell lines, representative of the most common MHC haplotypes in the European population. The human major histocompatibility complex (MHC) is contained within about 4Â Mb on the short arm of chromosome 6 and is recognised as the most variable region in the human genome. Trevanion, Steve Wilming, Laurens Rogers, Jane de Jong, Pieter J. Hart, Elizabeth Howe, Kevin Jackson, David K. Almeida, Jeff Forbes, Simon Gilbert, James G. Horton, Roger Gibson, Richard Coggill, Penny Miretti, Marcos Allcock, Richard J. Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project ![]()
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