Nový častý polymorfismu 17654 C/T v genu pro trankripční represorový onkoprotein Gfi-1 u kožních T-lymfomů
| Title in English | New 3´-UTR mutation in Gfi-1 gene is associated with cutaneous T-cell lymphoma |
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| Authors | |
| Year of publication | 2004 |
| Type | Article in Proceedings |
| Conference | Sborník XXI. Sjezdu českých a slovenských alergologů a klinických imunologů, Brno, 2004, supp 2 |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | gene; Gfi-1; cutaneous T-cell lymphoma |
| Description | Gfi-1 encodes transcriptional repressor oncoprotein identified by a retroviral insertion mutagenesis screen for tumor progression in mouse T-cell lymphoma lines. The aim of our study was to test the association of novel 1765 C/T polymorphism with CTCL in the Czech population. Materials and methods: We identified alteration in Gfi-1 non-coding 3- sequence that proved to be the 1765 C/T transition using heteroduplex analysis followed by capillary as well as radioisotopic sequencing. A simple PCR method with restriction analysis using AvrII enzyme was developed for the rapid and simple detection of this new polymorphism. The genotype distributions as well as allelic frequencies of the polymorphism were compared between 61 patients with CTCL and a group of 93 healthy individuals of similar age and gender distribution. Results: No significant difference in allelic frequencies of examined polymorphism 1765 C->T in patients with CTCL (T= 36.9) against the control subjects (T= 44.1) was proved (P=0.209). Similarly, no significant difference in the genotype distributions of the examined polymorphism between the patients with CTCL and the controls was found (p=0.227). However, the lower odds ratio for the TT genotype in CTCL patients compared to control subjects was observed (OR=0.546, 95% confidential interval=0.22-1.14, p=0.07). Discussion: The allelic variant T of 1765 C/T polymorphism is characterized by extinction of the binding site for AP-1 protein in 3 - region of Gfi-1 gene. The homozygote genotype TT seems to be associated with lower OR for CTCL. Therefore, the TT genotype of 1765 C->T polymorphism of Gfi-1 gene may have potentially protective effect against CTCL. |
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