Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing / 法医学杂志
Journal of Forensic Medicine
;
(6): 436-444, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-984024
ABSTRACT
OBJECTIVE@#To find the mutation of disease-causing genes of sudden unexplained death syndrome (SUDS) in the young by whole exome sequencing in one case.@*METHODS@#One SUDS case was found no obvious fatal pathological changes after conventional autopsy and pathological examination. The whole exome sequencing was performed with the Ion Torrent PGM™ System with hg19 as reference sequence for sequencing data. The functions of mutations were analyzed by PhyloP, PolyPhen2 and SIFT. A three-step bioinformatics filtering procedure was carried out to identify possible significative single nucleotide variation (SNV), which was missense mutation with allele frequency < 1% of myocardial cell.@*RESULTS@#Four rare suspicious pathogenic SNV were identified. Combined with the analysis of conventional autopsy and pathological examination, the mutation MYOM2 (8_2054058_G/A) was assessed as high-risk deleterious mutation by PolyPhen2 and SIFT, respectively.@*CONCLUSION@#Based on the second generation sequencing technology, analysis of whole exome sequencing can be a new method for the death cause investigation of SUDS. The gene MYOM2 is a new candidate SUDS pathogenic gene for mechanism research.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Autopsia
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Testes Genéticos
/
Causas de Morte
/
Técnicas de Diagnóstico Molecular
/
Morte Súbita
/
Síndrome de Brugada
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Exoma
Limite:
Humanos
Idioma:
Chinês
Revista:
Journal of Forensic Medicine
Ano de publicação:
2015
Tipo de documento:
Artigo
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