Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER, Santiago de Compostela, Spain.
Forensic Sci Int. 2010 Dec 15;203(1-3):15-24. doi: 10.1016/j.forsciint.2010.07.015. Epub 2010 Aug 11.
Sudden cardiac death (SCD) is a major health problem and constitutes one of the most important unsolved challenges in the practice of forensic pathology due to the failure to determine the cause of death. Particularly, an important number of previously healthy young people who have died suddenly and unexpectedly are consequence of genetic heart disorders, either structural cardiomyopathies or arrhythmogenic abnormalities. The technological approach to analyze this type of genetically heterogeneous disorders is far from easy but nowadays the variety of chemistries and methodologies improves choice. This review offers to the reader a state of the art of the available technologies for the study of genetics of sudden cardiac death, including mutation screening approaches, genome wide association studies, and the recently developed next-generation sequencing.
心脏性猝死（SCD）是一个主要的健康问题，也是法医学实践中尚未解决的最重要挑战之一，因为死因无法确定。特别是，大量以前健康的年轻人突然意外地猝死，是由于遗传心脏疾病，无论是结构性心肌病还是心律失常异常。分析这种基因异质性疾病的技术方法远非易事，但如今化学物质和方法学的多样性提高了选择的余地。本综述为读者提供了研究心脏性猝死遗传学的现有技术的最新进展，包括突变筛查方法、全基因组关联研究以及最近开发的下一代测序技术。
