title: PCR SSCP reveals haplotype related polymorphism of PERB1: a new marker for MHC beta block typing.
abstract: Many new Major Histocompatibility Complex (MHC) genes have been discovered in the last 5 years. Defining the polymorphism of these new genes may elucidate their function and their relevance to diseases with MHC associations. Polymerase chain reaction and single stranded conformation polymorphism (PCR SSCP) analyses were used to detect sequence polymorphisms of PERB1 demonstrated by comparing the available genomic sequence of four haplotypes. This study showed that PCR SSCP of PERB1 is reproducible. In addition, PERB1 alleles segregate within families together with MHC haplotypes. Typing results from the Forth Asia and Oceania Histocompatibility Workshop (4AOHW) cell panel indicate that the identified polymorphisms of PERB1 are "haplotypic', i.e., unrelated individuals carrying the same MHC ancestral haplotypes carry the same PERB1 SSCP pattern. Interestingly, PERB1 SSCP patterns allow the distinction of ancestral haplotypes which share HLA-B serological specificities, such as HLA-B44 and therefore this analysis can be used to further define MHC haplotypes and thus to improve our understanding of the evolution of this complex.
authors.affiliation: Department of Clinical Immunology, Royal Perth Hospital, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Leelayuwat
authors.forename: M A
authors.initials: MA
authors.lastname: Degli-Esposti
authors.forename: E
authors.initials: E
authors.lastname: Taylor
authors.forename: L J
authors.initials: LJ
authors.lastname: Abraham
authors.forename: R L
authors.initials: RL
authors.lastname: Dawkins
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D015235:HLA-B Antigens / Q000235:genetics; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D008285:Major Histocompatibility Complex; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D015235:HLA-B Antigens; D017468:Receptors, Fibroblast Growth Factor; D004247:DNA