engleski

The structure and polymorphism of the human IFN-gama receptor ligand-binding chain gene

The human interferon-gama receptor-1 (IFNgamaR1)chain is the ligand binding transmembrane glycoprotein involved in the first step of the IFN-gama action. the sequence of its gene - IFNGR1 - has been obtained from genomic cosmid clones TCFP-2.8 and -7.13 and reported (Z. Dembic et al.). In the promoter region of the IFNGR1, there are many gene expression regulatory elements and other nuclear factor binding sites. The introns were neither sequenced nor analysed for the presence of such elements. However, when it was discovered /Z. Dembic et al.) that other genes, like IFN-gama receptor-2 chain gene (IFNGR2), have DNA elements located also in introns, we wished to extend these findings to IFNGR1, and analyse its gene structure completely. We thus sequenced the introns of the IFNGR1 gene from the cosmid clone TCFP-2.8, and located all genetic elements in them. Furthermore, we assessed allelic polymorphism in the IFNGR1 gene using a microsatellite marker located between exons 5 and 6. There are probably more than 9 alleles of IFNGR1 among Caucasians, as the analyses are underway. The differences among them may involve deletion or mutation of genetic risk for humans in susceptibility to various infectious diseases caused by intracellular bacteria.

polymorphism; IFN-gama receptor

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