Developmental validation of the novel six-dye Goldeneye^(TM)DNA ID System 35InDel kit for forensic application

Insertion/deletion polymorphisms(InDels)have been treated as a prospective and helpful genetic marker in the fields of forensic human identification,anthropology and population genetics for the past few years.In this study,we developed a six-dye multiplex typing system consisting of 34 autosomal InDels and Amelogenin for forensic application.The contained InDels were specifically selected for Chinese population with the MAF≥0.25 in East Asia,which do not overlap with the markers of Investigator^(■)DIPplex kit.The typing system was named as GoldeneyeTM DNA ID System 35InDel Kit,and a series of developmental validation studies including repeatability/reproducibility,concordance,accuracy,sensitivity,stability,species specificity and population genetics were conducted on this kit.We confirmed that the 35InDel kit is precise,sensitive,species specific and robust for forensic practice.Moreover,the 35InDel kit is capable of typing DNA extracted from forensic routine case-type samples as well as degraded samples and mixture samples.All markers are proved to be highly polymorphic with an average observed heterozygosity(He)of 0.4582.The combined power of discrimination(CPD)is 0.999999999999978 and the combined power of exclusion in duos(CPE_(D))and trios(CPE_(T))are 0.978837 and 0.999573,respectively,which are higher than those of the Investigator^(■)DIPplex kit.Thus,the GoldeneyeTM DNA ID System 35InDel kit is suitable for forensic human identification and could serve as a supplementary typing system for paternity testing.

Regulatory variation within 3’UTR of STAT5A correlates with sudden cardiac death in Chinese populations

Definitive diagnosis to sudden cardiac death(SCD)is often challenging since the postmortem examination on SCD victims could hardly demonstrate an adequate cause of death.It is therefore important to uncover the inherited risk component to SCD.Signal transducer and activators of transcription 5 A(STAT5A)is a member of the STAT family and a transcription factor that is activated by many cell ligands and associated with various cardiovascular processes.In this study,we performed a systematic variant screening on the STAT5A to filter potential functional genetic variations.Based on the screening results,an insertion/deletion polymorphism(rs3833144)in 3’UTR of STAT5A was selected as the candidate variant.A total of 159 SCD cases and 668 SCD matched healthy controls was enrolled to perform a case-control study and evaluate the association between rs3833144 and SCD susceptibility in Chinese populations.Logistic regression analysis showed that the deletion allele of rs3833144 had significantly increased the SCD risk(odds ratio(OR)=1.54;95%confidence interval(CI)=1.18-2.01;P=0.000955).Further genotype-expression eQTL analysis showed that samples with deletion allele appeared to lower expression of STAT5A,and in silico prediction suggested the local 3 D structure changes of STAT5A mRNA caused by the variant.On the other hand,the bioinformatic analysis presented that promoters of RARA and PTGES3L-AARSD1 could interact with rs3833144,and eQTL analysis showed the higher expression of both genes in samples with deletion allele.Dual-luciferase activity assays also suggested the significant regulatory role of rs3833144 in gene transcription.Our current data thus suggested a possible involvement of rs3833144 to SCD predisposition in Chinese populations and rs3833144 with potential function roles may become a candidate marker for SCD diagnosis and prevention.