Cho Yong Gu, Choi Byung Jun, Kim Chang Jae, Song Jae Whie, Kim Su Young, Nam Suk Woo, Lee Sug Hyung, Yoo Nam Jin, Lee Jung Young, Park Won Sang
Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
APMIS. 2006 Jun;114(6):458-64. doi: 10.1111/j.1600-0463.2006.apm_431.x.
To investigate whether the KLF6 gene plays an important role in the development and/or progression of colorectal cancers, we searched for mutations and allelic loss of the KLF6 gene in 123 colorectal adenocarcinomas by performing PCR-SSCP sequencing. We found five somatic missense mutations: S155N, G163S, G163D, P183L and G195S. Three of them affected the activation domain of KLF6 and four mutations were predicted to disrupt the putative phosphorylation sites. On LOH analysis, 63 cases were heterozygous for at least one marker and 27 cases (42.9%) showed allelic loss at these markers. These data further support that the KLF6 gene may be one of the candidate tumor suppressor genes in colorectal cancers and that genetic alteration of the KLF6 gene might play a role in the development of colorectal carcinomas.
为了研究KLF6基因在结直肠癌的发生发展过程中是否发挥重要作用，我们通过聚合酶链反应-单链构象多态性测序（PCR-SSCP），在123例结直肠腺癌中寻找KLF6基因的突变和等位基因缺失情况。我们发现了5个体细胞错义突变：S155N、G163S、G163D、P183L和G195S。其中3个突变影响了KLF6的激活结构域，4个突变预计会破坏假定的磷酸化位点。在杂合性缺失（LOH）分析中，63例至少对一个标记杂合，27例（42.9%）在这些标记处显示等位基因缺失。这些数据进一步支持KLF6基因可能是结直肠癌候选抑癌基因之一，且KLF6基因的遗传改变可能在结直肠癌的发生中起作用。
