In the first part of this review article, author summarizes our current knowledge on the structure and function of three classes (class I, class II and class III) of the major histocompatibility complex. Conception of the extended, ancestral haplotype is introduced and special features (association with disorders of the immune function, linkage to several autoimmune diseases) of one of these ancestral haplotype designated 8.1 (AH8.1) is highlighted. Then author summarizes recent findings of his working group. In the framework of extended domestic and international collaboration they demonstrated the increased risk of the AH8.1 carriers to become regular smokers as well as to develop colorectal cancer, while patients with cystic fibrosis who carried this haplotype were found to exhibit a markedly delayed colonization. Using their newly developed method authors determined copy number of the two genes (C4A and C4B) encoding fourth component of complement and found that carriers of low (0 or 1) C4B gene copies has a strongly increased risk for cardiovascular diseases morbidity and mortality.
|Translated title of the contribution||A special region of the human genome, central part of the major histocompatibility complex (MHC) on the short arm of chromosome 6. Clinical implications|
|Number of pages||12|
|Publication status||Published - nov. 5 2007|
- 8.1 ancestral haplotype
- Extended haplotype
ASJC Scopus subject areas