RESUMEN
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.
Asunto(s)
Autopsia , Síndrome de Brugada/genética , Muerte Súbita/etiología , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Técnicas de Diagnóstico Molecular/métodos , Causas de Muerte , Análisis Mutacional de ADN/métodos , Exoma , Frecuencia de los Genes , Pruebas Genéticas/métodos , Humanos , Biología Molecular , Datos de Secuencia Molecular , MutaciónRESUMEN
OBJECTIVE: To explore the postmortem changes of cornea thickness measured by ultrasonic pachymetry. METHODS: Eleven rabbits were randomly divided into two groups: one group with intact corneal epithelium and another group without intact corneal epithelium. In the later group, the corneal epithelium of the rabbit was scraped using mechanical elimination method. The corneal thickness was monitored continuously by ultrasonic pachymetry at several postmortem interval points in rabbits of the two groups. The changes of corneal thickness and postmortem interval were explored by relative regression analysis. RESULTS: The thickness of the cornea showed a strong non-linear correlation with the postmortem interval in the group with intact corneal epithelium. The group with intact corneal epithelium showed the correlation coefficient 0.922 and the group without intact corneal epithelium showed the correlation coefficient 0.822, respectively. CONCLUSION: The corneal thickness measured by ultrasonic pachymetry shows a potential value for estimating early postmortem interval. The intact corneal epithelium is a crucial factor for the measurement of cornea thickness by ultrasonic pachymetry.