New technologies in the genetic approach to sudden cardiac death in the young

被引：15

作者：

Brion, M. ^{[1
,2
,3
,4
]}

Quintela, I. ^{[1
,2
,3
,5
]}

Sobrino, B. ^{[1
,2
,3
,5
]}

Torres, M. ^{[1
,2
,3
,5
]}

Allegue, C. ^{[2
,3
,4
]}

Carracedo, A. ^{[1
,2
,3
,5
]}

机构：

[1] Univ Santiago de Compostela, Inst Legal Med, Santiago De Compostela 15782, Spain

[2] Univ Santiago de Compostela, CIBERER, Santiago De Compostela 15782, Spain

[3] Galician Fdn Genom Med, Genom Med Grp, Santiago De Compostela, Spain

[4] CHUS, IDIS, Santiago De Compostela, Spain

[5] Univ Santiago de Compostela, Natl Genotyping Ctr CEGEN, Santiago De Compostela 15782, Spain

来源：

FORENSIC SCIENCE INTERNATIONAL | 2010年 / 203卷 / 1-3期

关键词：

Sudden cardiac death; Cardiomyopathies; Arrythmogenic diseases; Mutation screening; Next generation sequencing; Genome wide association studies; GENOME-WIDE ASSOCIATION; COPY-NUMBER VARIATION; QT INTERVAL DURATION; MUTATION DETECTION; UNEXPLAINED DEATH; PRIMER EXTENSION; DIAGNOSTIC YIELD; COMMON VARIANTS; HIGH-RESOLUTION; EXON CAPTURE;

D O I：

10.1016/j.forsciint.2010.07.015

中图分类号：

DF [法律]; D9 [法律]; R [医药、卫生];

学科分类号：

0301 ; 10 ;

摘要：

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. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

引用

页码：15 / 24

页数：10

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