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首页> 外文期刊>World Journal of Gastroenterology >Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients.
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Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients.

机译:在意大利患者中,UGT1A7,UGT1A9,ARP,SPINK1和CFTR基因多态性与胰腺癌之间缺乏关联。

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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 DeltaF508 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.
机译:目的:同时调查UGT1A7,UGT1A9,ARP,SPINK和CFTR基因,以验证遗传多态性是否易患胰腺癌(PC)。方法:分析61例胰腺癌患者和105例健康对照(HC)的基因组DNA。通过PCR-RFLP分析确定UGT1A7基因型。使用特异性PCR和测序来分析UGT1A9,ARP,SPINK1和CFTR基因的遗传变异。结果:UGT1A7中有四个不同的等位基因(* 1:WT; * 2:N129K和R131K; * 3:N129K,R131K和W208R;和* 4:W208R)和三个不同的等位基因(* 1:WT; * 4:Y242X ; * 5:D256N)。在PC患者和HC中,以相似的频率观察到所有UGT1A多态性。在PC患者和HC中以相似的频率发现ARP中的七个不同等位基因。 SPINK1突变N34S和P55S发生在5例PC患者中,其患病率(4.1%)与HC观察值无明显差异(2.0%)。在三名PC患者中识别出唯一的CFTR DeltaF508突变,其患病率(4.9%)与HC相似。结论:意大利患者中UGT1A7,UGT1A9,ARP,SPINK1和CFTR基因多态性与PC无关。

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