Tunca Berrin, Menigatti Mirco, Benatti Piero, Egeli Unal, Cecener Gulsah, Pedroni Monica, Scarselli Alessandra, Borghi Francesca, Sala Elisa, Yilmazlar Tuncay, Zorluoglu Abdullah, Yerci Omer, de Leon Maurizio Ponz
Department of Medical Biology and Genetics, Faculty of Medicine, Uludag University, Bursa, Turkey.
Dis Colon Rectum. 2005 Mar;48(3):567-71. doi: 10.1007/s10350-004-0799-1.
Familial adenomatous polyposis is an autosomal dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps. Mutations in the adenomatous polyposis coli gene are primarily responsible for the development of this disease. This study was designed to investigation of adenomatous polyposis coli (APC) gene mutations in members of familial adenomatous polyposis family to identify individuals at risk of the disease.
We examined one patient with familial adenomatous polyposis and 21 family members including one affected person from familial adenomatous polyposis and 20 nonsymptomatic persons. We studied E, D, F, and G segments of exon 15 of the adenomatous polyposis coli gene by heteroduplex analysis.
We used silver staining method for staining. We found a mutation for five persons at segment F of exon 15 of the adenomatous polyposis coli gene. Two of them were affected by colorectal cancer, one of whom was the proband, and the other three were nonsymptomatic family members. The pathogenetic mutation was a T deletion at codon 1172, causing a frameshift in the adenomatous polyposis coli gene, as a result of the sequencing analysis of these cases.
Investigation of adenomatous polyposis coli gene mutations is very important for the identification of genetic susceptibility to colorectal cancer and for the definition of tumor developing at an early stage. Furthermore, the identification of this mutation for the first time in a Turkish family will be useful to foster further studies on familial adenomatous polyposis in Turkey.
家族性腺瘤性息肉病是一种常染色体显性疾病，其特征为存在100个或更多的结直肠腺瘤性息肉。腺瘤性息肉病（APC）基因的突变是导致该疾病发生的主要原因。本研究旨在调查家族性腺瘤性息肉病家族成员中的APC基因突变情况，以识别有患病风险的个体。
我们检查了1例家族性腺瘤性息肉病患者和21名家庭成员，其中包括1例家族性腺瘤性息肉病患者和20名无症状个体。我们通过异源双链分析研究了腺瘤性息肉病基因第15外显子的E、D、F和G片段。
我们使用银染法进行染色。我们在腺瘤性息肉病基因第15外显子的F片段发现5人存在突变。其中2人患有结直肠癌，1人是先证者，另外3人是无症状家庭成员。通过对这些病例的测序分析，致病突变是第1172密码子处的T缺失，导致腺瘤性息肉病基因发生移码。
对腺瘤性息肉病基因突变的研究对于识别结直肠癌的遗传易感性以及早期肿瘤的诊断非常重要。此外，首次在一个土耳其家族中鉴定出这种突变将有助于推动土耳其家族性腺瘤性息肉病的进一步研究。
