Molecular screening of adenomatous gastrointestinal polyposis syndrome

DNA extracted from sixty subjects with clinical suspicion/diagnosis of polyposis and twenty health subjects were analyzed, using the NGS technique, for genes involved in the adenomatous polyposis. Patients n° 13 and 44 were also analyzed for genes involved in the hamartomatous polyposis. Two gene panels, one specific for the adenomatous polyposis syndromes, including 6 genes: APC (NM_000038.6), AXIN2 (NM_004655.3), MUTYH (NM_001048174.2), NTHL1 (NM_002528.7), POLD1 (NM_002691.4), and POLE (NM_006231.4) and another specific for the hamartomatous polyposis, including 10 genes (AKT1 (NM_001382430.1), BMPR1A (NM_004329.3), CDH1 (NM_004360.5), ENG (NM_001114753.3), PIK3CA (NM_006218.4), PTEN (NM_000314.8), SDHB (NM_003000.3), SDHD (NM_003002.4), SMAD4 (NM_005359.6), and STK11/LKB1(NM_000455.5), and previously described) were analyzed by next generation sequence technique using AmpliSeq Library PLUS for Illumina Kit (catalog ID: 20019101) according to the manufacturers’ instructions.

本研究提取60名临床疑似或确诊息肉病受试者及20名健康受试者的DNA，采用下一代测序（Next Generation Sequencing, NGS）技术，针对腺瘤性息肉病相关基因进行检测。其中，13号与44号患者额外针对错构瘤性息肉病相关基因开展了检测。本研究使用两组基因panel：一组为腺瘤性息肉病综合征特异性panel，包含6个基因：APC（NM_000038.6）、AXIN2（NM_004655.3）、MUTYH（NM_001048174.2）、NTHL1（NM_002528.7）、POLD1（NM_002691.4）及POLE（NM_006231.4）；另一组为错构瘤性息肉病特异性panel，包含10个基因：AKT1（NM_001382430.1）、BMPR1A（NM_004329.3）、CDH1（NM_004360.5）、ENG（NM_001114753.3）、PIK3CA（NM_006218.4）、PTEN（NM_000314.8）、SDHB（NM_003000.3）、SDHD（NM_003002.4）、SMAD4（NM_005359.6）及STK11/LKB1（NM_000455.5，已有文献报道）。所有检测均采用适配Illumina平台的AmpliSeq Library PLUS试剂盒（货号：20019101），严格按照制造商提供的操作说明进行。