法医学杂志2017，Vol.33Issue(4)：339-343,5.DOI:10.3969/j.issn.1004-5619.2017.04.001
全外显子组测序对肥厚型心肌病猝死者的基因分析
Gene Analysis for the Sudden Death of Hypertrophic Cardiomyopathy by Whole Exome Sequencing
摘要
Abstract
Objective To analyze the related pathogenicity gene mutations in a sudden death of hypertrophic cardiomyopathy (HCM) on whole exome level.Methods Whole exome sequencing (WES) was been performed on a sudden death case sample with pathological features of HCM by Illumina(R) Hiseq 2500 platform.Using hgl9 as the reference sequences,the sequencing data were analyzed.Suspicious single nucleotide variants (SNV) were screened,and the conservatism and function were analyzed by the software such as PhyloP,PolyPhen-2,SIFT,etc.Results After screening,a heterozygous mutation C719R was finally identified in the gene MYBPC3 of this case.Conclusion The molecular anatomy on whole exome level by second generation sequencing technology can help to define the molecular mechanism of HCM and provide a new mothed and thought for analysis of death cause.关键词
法医病理学/心肌病,肥厚性/猝死,心脏/外显子组/突变Key words
forensic pathology/cardiomyopathy, hypertrophic/death, sudden, cardiac/exome/mutation分类
社会科学引用本文复制引用
许传超,白云志,许心舒,吕国丽,赖小平,陈锐,林汉光,邝文健..全外显子组测序对肥厚型心肌病猝死者的基因分析[J].法医学杂志,2017,33(4):339-343,5.基金项目
2013年广东省自然基金资助项目(S2013040011977) （S2013040011977）
2015年度广东省自然科学基金资助项目(2015A030310456) （2015A030310456）
