Naslov
Alterations of the DPC4 tumor-suppressor gene in renal cell carcinoma

Autori
Popović Hadžija, Marijana ; Hrašćan, Reno ; Herak Bosnar, Maja ; Zeljko, Žarko ; Hadžija, Mirko ; Čadež, Josip ; Pavelić, Krešimir ; Kapitanović, Sanja

Izvornik
Urological research (0300-5623) 32 (2004), 3; 229-235

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
tumor suppressor genes; DPC4; renal cell carcinoma; loss of heterozygosity

Sažetak
The aim of our study was to investigate the alterations of the DPC4 tumor suppressor gene in renal cell carcinoma (RCC). The study included 32 tumor specimens of Croatian patients with diagnosis of RCC. We examined loss of heterozygosity (LOH) using three specific oligonucleotide primers for the three DPC4 polymorphic markers. Our investigation of mutations in the DPC4 gene was focused on specific parts of the gene ; exons 2, 8, 10 and 11. These exons belong to the mad homology domains 1 (exon 2) and 2 (exons 8-11). The presence of previously documented mutation in exons 2 (codon 100), 8 (codon 358), 10 (codon 412), and 11 (codon 493) was investigated by restriction fragment length polymorphism analysis (RFLP). Finally, the study was extended to screening other type of mutation in four selected exons by single strand conformation polymorphism assay (SSCP). To increase the heterozygosity all 32 tumor specimens were tested with three primers for polymorphic markers, and even 30 (94%) of them were heterozygous (informative). Loss of heterozygosity at any of investigated markers revealed only 4 sample (13%) from 30 informative samples. None tumor samples were positive for mutation in 4 investigated exons analyzed by RFLP. Also, none investigated sample showed other type of mutation performed in denaturing conditions. The results show genetic alterations only in a small minority of patients, probably because the DPC4 gene has only partially been covered by our work. It seems that exon 2 (belong MH1 domain) and exons 8, 10, 11 (belong MH2 domain) do not undergo alterations in RCC. To the better understanding the role of DPC4 in renal cell carcinoma, the investigation must be extended on other exons of the gene.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA