PubMed · 13752811
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J KEVORKIAN. 1961. The fundus oculi as a "post-mortem clock".. https://pubmed.ncbi.nlm.nih.gov/13752811/
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Real-time RT-PCR using a TaqMan fluorogenic detection system is a simple and sensitive assay for quantitative analysis of gene transcription. This method is of potential usefulness in quantifying mRNA of a target gene in autopsy material that has undergone only a small amount of postmortem degradation. The TaqMan fluorogenic detection system can monitor PCR in real time using a dual-labeled fluorogenic hybridization probe (TaqMan probe) and a polymerase with 5'-3' exonuclease activity. The procedures of the quantitative RT-PCR are as follows: RNA is extracted from autopsy material and used to synthesize cDNA by an RT reaction, and the target of interest is amplified and detected by the real-time PCR. The absolute amount of target mRNA in the sample is then determined relative to a standard curve. This chapter describes the methodology of the TaqMan fluorogenic detection system in handling autopsy material in the gene transcription assay.
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Neonatal haemochromatosis is a very rare disorder with an unclear aetiology and an extremely poor outcome. A 24 year-old patient was delivered at 32 week gestation. The new-born presented a liver failure syndrome and died shortly after birth. The diagnosis of haemochromatosis was based on iron deposition revealed by the autopsy. In families at risk, ultrasound foetal follow up should be proposed and the detection of an anomaly suggestive of NH recurrence justifies a MRI in early third trimester. Liver transplantation is the treatment of choice for advanced disease.