New technologies in the genetic approach to sudden cardiac death in the young.
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.
Brion
M
M
Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER, Santiago de Compostela, Spain. maria.brion@usc.es
Quintela
I
I
Sobrino
B
B
Torres
M
M
Allegue
C
C
Carracedo
A
A
D001145:Arrhythmias, Cardiac / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics; D017931:DNA Primers; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D053803:Forensic Genetics; D020869:Gene Expression Profiling; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D019914:Taq Polymerase
D017931:DNA Primers; D005819:Genetic Markers; D019914:Taq Polymerase