巴西东南部家族性腺瘤性息肉病的分子基础：六种新突变的鉴定。
Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations.
机构信息
1 Departament of Genetics, Ribeirão Preto Medical School, University of São Paulo, Brazil.
3 Center for Cell-Based Therapy CEPID/FAPESP, and Regional Blood Center of Ribeirão Preto, Brazil.
出版信息
Int J Biol Markers. 2019 Mar;34(1):80-89. doi: 10.1177/1724600818814462. Epub 2019 Mar 11.
BACKGROUND
The goal of this study was to screen point mutations and deletions in APC and MUTYH genes in patients suspected of familial adenomatous polyposis (FAP) in a Brazilian cohort.
METHODS
We used high-resolution melting, Sanger direct sequencing and multiplex ligation-dependent probe association (MLPA) assays to identify point mutations, and large genomic variations within the coding regions of APC and MUTYH genes.
RESULTS
We identified 19 causative mutations in 40 Brazilian patients from 20 different families. Four novel mutations were identified in the APC gene and two in the MUTYH gene. We also found a high intra- and inter-familial diversity regarding extracolonic manifestations, and gastric polyps were the most common manifestation found in our cohort.
CONCLUSION
We believe that the FAP mutational spectrum can be population-specific and screening FAP patients in different populations can improve pre-clinical diagnosis and improve clinical conduct.
背景
本研究的目的是在巴西队列中筛查疑似家族性腺瘤性息肉病（FAP）患者的 APC 和 MUTYH 基因中的点突变和缺失。
方法
我们使用高分辨率熔解、Sanger 直接测序和多重连接依赖性探针扩增（MLPA）检测来鉴定 APC 和 MUTYH 基因编码区的点突变和大片段变异。
结果
我们从 20 个不同的家系中鉴定了 40 名巴西患者的 19 个致病突变。在 APC 基因中发现了 4 个新的突变，在 MUTYH 基因中发现了 2 个突变。我们还发现，在结肠外表现方面存在着很高的家族内和家族间的多样性，胃息肉是我们队列中最常见的表现。
结论
我们认为 FAP 的突变谱可能具有人群特异性，在不同人群中筛查 FAP 患者可以改善临床前诊断，并改善临床治疗。
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