伊朗家族性腺瘤性息肉病患者APC基因的移码突变（密码子1309和密码子849缺失）：病例系列及文献综述

Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature.

作者信息

Kashfi Seyed Mohammad Hossein, Behboudi Farahbakhsh Faeghe, Golmohammadi Mina, Nazemalhosseini Mojarad Ehsan, Azimzadeh Pedram, Asadzadeh Aghdaie Hamid

机构信息

Gastroenterology and Liver Diseases Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Int J Mol Cell Med. 2014 Summer;3(3):196-202.

Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumor suppressor gene. Peripheral blood samples were collected from patients and Exon 15 of the APC gene was studied by direct sequencing after genomic DNA extraction. Four frameshift mutations were detected. Two patients had 5 bp deletion, c.3927_3931delAAAGA and two siblings presented deletion at codon 849 (c.2547_2548delTA p.Asp849fsX62). This study was the first report of genetic screening in Iranian FAP patients. In contrast to other studies we revealed that one patient with mutation at codon 1309 had an attenuated phenotype.

家族性腺瘤性息肉病（FAP）导致的结直肠癌（CRC）病例不到1%，它以常染色体显性特征遗传。患者通常会出现数百至数千个腺瘤，如果不治疗，到35 - 40岁时会发展为结直肠癌。在此，我们报告4例腺瘤性息肉病（APC）肿瘤抑制基因第15外显子发生种系移码突变（小缺失）的患者。从患者采集外周血样本，提取基因组DNA后通过直接测序研究APC基因的第15外显子。检测到4个移码突变。2例患者有5 bp缺失，即c.3927_3931delAAAGA，2例同胞在密码子849处出现缺失（c.2547_2548delTA p.Asp849fsX62）。本研究是伊朗FAP患者基因筛查的首次报告。与其他研究不同的是，我们发现1例密码子1309发生突变的患者具有轻度表型。