title: The phylogenies of introns 4-7 demonstrate an inconsistent pattern between human leukocyte antigen-C group topologies.
abstract: In this study, we have sequenced introns 4-7 in 31 human leukocyte antigen-C (HLA-C) alleles representing all allelic groups. Intron sequences show a patchwork pattern of polymorphism. Bootstrap support for phylogenetic lineages and for differentiation between groups is limited due to the high homology of intron sequences, where the substitution of a single nucleotide may lead to the assignment to different clusters. The intron data suggest the idea of a Cw*06/Cw*12 family, which is closely related to a hypothetical Cw*05/Cw*08 family. Moreover, a third family consisting of Cw*01/Cw*04/Cw*18 may exist. The intron data compiled in our study may be the basis for further sequencing studies. The detection of three novel alleles (Cw*0401new, Cw*140201new, and Cw*1701new) suggests that the HLA-C polymorphism might have been strongly underestimated to date.
authors.affiliation: Department of Transfusion Medicine, Hannover Medical School, Hannover, Germany.
authors.forename: H-A
authors.initials: HA
authors.lastname: Elsner
authors.forename: R
authors.initials: R
authors.lastname: Blasczyk
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005075:Biological Evolution; D019070:Cell Lineage; D004247:DNA / Q000235:genetics*; D015236:HLA-C Antigens / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
chemical_list: D015236:HLA-C Antigens; D004247:DNA