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Analysis of the BCl10 Gene Mutation in Colon Cancer

大腸癌組織Bcl10基因的分析

摘要


背景 據最近文獻報告指出,BCl10基因與黏膜層淋巴腺癌及若干癌症致癌基因有關。 方法 本研究是從四十二個由病理診斷確認之大腸癌樣本及附屬周邊之正常部分組織,抽取基因體。利用以單股核酸多元性電泳及核酸定序法來分析BCl10基因,並且以一百個正人之白血球基因體做為對照組。 結果 研究結果發現在大腸癌樣本中,此BCl10基因上之第五密碼子之鹼基GCA(胺基丙酸)突變為TCA (絲氨酸)以及第213密碼之鹼基GGA (廿氨酸)突變為GAA (麩氨酸)。其突變率分別約為10.7%與13.1%。這二者密碼子的改變也同時存在於正常樣本的大腸癌患者及正常人的白血球基因體中。 結論 此二者鹼基改變是BCl10基因上之鹼基多元性變化,可能與大腸癌無關。

並列摘要


Background. The Bcl10 gene, with activating NF-κB and inducing apoptosis of MCF 7 and 293 cells, has been shown to mutate in lymphoma of mucosa-associated lymphoid tissue and several types of tumorous cell lines. Methods. In this study, we analyzed Bcl10 gene sequences in colon cancer specimens from 42 patients paired with matched healthy tissue identified using pathological examination and 100 healthy volunteers as the control group. All three exons of the Bcl10 gene were analyzed using the PCR-based single strand conformation polymorphism method and direct DNA sequencing. Results. The results showed that about 10.7% of chromosomes (9/84) from the 42 specimens had missense mutations at codon 5 from GCA (alanine) to TCA (serine) and about 13.1% of chromosomes (11/84) had missense mutations at codon 213 from GGA (glycine) to GAA (glutamic acid) in the Bcl10 gene. Conclusions. These two missense mutations were found not only in the cancerous colon tissues but also in paired non-cancerous tissues and in samples from the healthy volunteers. These data suggest that these two changes of coding sequence were polymorphisms, and have no relationship with the development of colon cancer.

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