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Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system

Forensic Sciences Research 2022年第4期7卷 702-707页

作者： Anqi Chen Ruiyang Tao Chengtao Li Suhua Zhang Shanghai Key Laboratory of Forensic Medicine Shanghai Forensic Service PlatformAcademy of Forensic ScienceMinistry of JusticeShanghaiChina Department of Forensic Medicine School of Basic Medical SciencesShanghai Medical CollegeFudan UniversityShanghaiChina

Mutations might challenge the paternity index calculation in forensic identification.While many studies have focussed on the autosomal short tandem repeats(A-STR),the mutation status of sex chromosomes and single nucleotide polymorphism(SNP)remain blank.Next generation sequencing(NGS),known as high throughput and large sequence polymorphism,is a promising tool for forensic genetics.To describe the mutation landscapes in the paternity cases with genetic inconsistencies,a total of 63 parentage confirmed paternity cases contained at least one mismatched locus have been collected.The mutations were subsequently evaluated using Verogen’s MPSforenseqtm dnasignature kit and a microsatellite instability(MSI)detection kit.The result showed 98.41%(62/63)of the cases had no additional autosomal mutations even when the number of A-STRs increased to 27.As for the sex chromosomes,about 11.11%(7/63)of the cases exhibited either X-STR or Y-STR mutations.D2S1338,FGAand Penta Ewere the most frequent altered STRs,which suggested they might be the mutation hotspots.In addition,a male with sex chromosome abnormality was observed accidently,whose genotype might be 47,XXY,rather than MSI.Nearly 56.90%of the STR loci possessed isoalleles,which might result in higher STR polymorphisms.No Mendelian incompatibility was detected among the SNP markers,which indicated that SNP was a more reliable genetic marker in the genetic-inconsistent paternity cases.

关键词： Forensic sciences forensic genetics paternity testing next generation sequencing(NGS) forenseqtm dnasignature prep kit

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