title: BamHI-SacI RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication.
abstract: Gm immunoglobulin allotypes have been studied in 1157 individuals of seven Northern Selkup populations, which account for 80% of the entire population of this west Siberian tribe. This study confirms that the northern Selkup populations are a Caucasoid-Mongoloid hybrid. Restriction fragment length polymorphism (RFLP) analysis of the IGHG genes using double BamHI-SacI digests, performed on 475 DNA samples, allowed us to describe nine new BamHI-SacI haplotypes (BS47 to BS55), eight of them being characterized by IGHG gene deletion or duplication: G1 (BS49) or G4 (BS55) deletion, G4 duplication (BS51), GP-G2-G4 multigene deletion (BS50), duplication (BS48, BS53 and BS54) or triplication (BS52). A new rare Gm haplotype 15,16*;1,17;23 has been found associated with BS52. The BS51 haplotype characterized by a duplicated G4 gene (additional 7.85 kb G4 band identifying a new G4*C5 allele) was always found associated with the Gm 5*;3;23 haplotype. A high RFLP diversity has been observed for the Northern-Mongoloid haplotype Gm 15,16*;1,17;.. which was found (1) with the BS27 haplotype characterized by a 3-exon hinge G3 gene, (2) with two different GP-G2-G4 multigene duplications, BS53 and BS54 haplotypes, which differ by the size of the duplicated G4 genes, and (3) with the BS55 haplotype characterized by a G4 deletion. In the Northern Selkups, haplotypes with duplicated genes were observed at a higher frequency (24%) than haplotypes with deleted genes (6%).
authors.affiliation: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk.
authors.forename: L P
authors.initials: LP
authors.lastname: Osipova
authors.forename: O L
authors.initials: OL
authors.lastname: Posukh
authors.forename: V P
authors.initials: VP
authors.lastname: Wiebe
authors.forename: T
authors.initials: T
authors.lastname: Miyazaki
authors.forename: H
authors.initials: H
authors.lastname: Matsumoto
authors.forename: G
authors.initials: G
authors.lastname: Lefranc
authors.forename: M P
authors.initials: MP
authors.lastname: Lefranc
mesh_terms: D001110:Arctic Regions; D044466:Asian People / Q000235:genetics*; D015139:Blotting, Southern; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D005803:Genes, Immunoglobulin / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012703:Serotyping; D012800:Siberia; D044465:White People / Q000235:genetics*