AIM： To investigate simultaneously UGT1A7, UGT1A9, ARP, SPINK and CFTR genes to verify whether genetic polymorphisms predispose to the development of pancreatic cancer （PC）.METHODS： Genomic DNA of 61 pancreatic ca...AIM： To investigate simultaneously UGT1A7, UGT1A9, ARP, SPINK and CFTR genes to verify whether genetic polymorphisms predispose to the development of pancreatic cancer （PC）.METHODS： Genomic DNA of 61 pancreatic cancer patients and 105 healthy controls （HC） were analyzed. UGT1A7 genotyping was determined by PCR-RFLP analysis. Specific PCR and sequencing were used to analyze genetic variants of UGT1A9, ARP, SPINK1 and CFTR genes.RESULTS： Four different alleles （^＊1：WT; ＂2： N129K and R131K; ＂3： N129K, R131K, and W208R; and ＂4： W208R） in UGT1A7 and three different alleles （^＊1：WT;^＊4： Y242X; and ^＊5： D256N） in UGT1A9 were detected. All UGT1A polymorphisms were observed at similar frequency in PC patients and HC. Seven different alleles in ARP were found in PC patients and HC at similar frequency. The SPINK1 mutations N34S and P55S occurred in five PC patients with a prevalence （4.1%） not significantly different from that observed （2.0%） in HC. The only CFTR AFS08 mutation was recognized in three PC patients with a prevalence （4.9%） similar to HC.CONCLUSION： UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.展开更多
基金Supported by the Italian Ministry of Health, grant No. RC0402GA19
文摘AIM： To investigate simultaneously UGT1A7, UGT1A9, ARP, SPINK and CFTR genes to verify whether genetic polymorphisms predispose to the development of pancreatic cancer （PC）.METHODS： Genomic DNA of 61 pancreatic cancer patients and 105 healthy controls （HC） were analyzed. UGT1A7 genotyping was determined by PCR-RFLP analysis. Specific PCR and sequencing were used to analyze genetic variants of UGT1A9, ARP, SPINK1 and CFTR genes.RESULTS： Four different alleles （^＊1：WT; ＂2： N129K and R131K; ＂3： N129K, R131K, and W208R; and ＂4： W208R） in UGT1A7 and three different alleles （^＊1：WT;^＊4： Y242X; and ^＊5： D256N） in UGT1A9 were detected. All UGT1A polymorphisms were observed at similar frequency in PC patients and HC. Seven different alleles in ARP were found in PC patients and HC at similar frequency. The SPINK1 mutations N34S and P55S occurred in five PC patients with a prevalence （4.1%） not significantly different from that observed （2.0%） in HC. The only CFTR AFS08 mutation was recognized in three PC patients with a prevalence （4.9%） similar to HC.CONCLUSION： UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.
