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Hum Genet. 1999 Dec;105(6):530-41.

BamHI-SacI RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication.

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Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk.


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%).

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