Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained DeathCSCD |
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| Institution: | 1.Department of Forensic Medicine, Zhongshan Medical College, Sun Yat-sen University, Guangzhou510080;2.Dongyuan Public Security Bureau, Dongyuan517500;3.Huangpu Branch of Guangzhou Municipal Public Security Bureau, Guangzhou510530;4.Panyu Branch of Guangzhou Municipal Public Security Bureau, Guangzhou511430;5.Institute of Criminal Science and Technology, Guangzhou Municipal Public Security Bureau, Guangzhou510030;6.Institute of Criminal Science and Technology, Shenzhen Municipal Public Security Bureau, Shenzhen518008; |
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| Abstract: | Objective: To explore the genetic variation sites of caveolin (CAV) and their correlation with sudden unexplained death (SUD). Methods: The blood samples were collected from SUD group (71 cases), coronary artery disease (CAD) group (62 cases) and control group (60 cases), respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exonintron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was confirmed and statistical analysis was performed. Results: A total of 4 variation sites that maybe significative were identified in SUD group, and two were newfound which were CAV1:c.45C>T (T15T) and G4V7:C.512G>A (R171H), and two were SNP loci which were CAVl:c.246C>T (rs35242077) and CAV3:C.990T (rsl008642) and had significant difference (P<0.05) in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group. Conclusion: The variants of CAV1 and CAV3 may be correlated with a part of SUD group. © 2017 by the Editorial Department of Journal of Forensic Medicine. |
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| Keywords: | Caveolin Death sudden cardiac Forensic genetics Forensic pathology Gene mutation Single nucleotide polymorphism Sudden unexplained death |
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