Résumé
Objective To find the mutation of disease-causing genes of sudden unexplained death syn-drome (SU D S ) in the young by whole exome sequencing in one case. Methods O ne SU D S case was found no obvious fatal pathological changes after conventional autopsy and pathological examination. The whole exome sequencing was performed with the Ion Torrent PGMTM Systemwith hg19 as reference se-quence 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 nu-cleotide variation (SN V ), which was missense mutation with allele frequency <1% of myocardial cell. Results Four rare suspicious pathogenic SN V were identified. C ombined with the analysis of convention-al autopsy and pathological examination, the mutation MYOM 2 (8_2054058_G/A ) was assessed as high-risk deleterious mutation by PolyPhen2 and SIFT, respectively. Conclusion Based on the second genera-tion sequencing technology, analysis of whole exome sequencing can be a newmethod for the death cause investigation of SU D S. The gene MYOM2 is a newcandidate SU D S pathogenic gene for mecha-nismresearch.
Résumé
Objective To investigate the applicability of the K~+ concentration in aqueous humor to estimate postmortem interval(PMI).Methods 30 White New-Zealand rabbit were sacrificed by air embolism and divided into 10 groups.Aqueous humor and vitreous humor were sampled at 0.5h,1h,3h,6h,8h,12h,16h,20h,and 24h after death.The concentration of potassium,sodium and calcium were analyzed by an autoanalyzer and the data were statistically processed by SPSS software for Windows.Results Increase in potassiam concentration in aqueous humor was correlated with the postmortem interval(R~2=0.956).Conclusion Measurement of potassium concentration in aqueous humor may be used for PMI estimation.