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Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing

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  • 国家科技期刊平台
  • NETL
  • NSTL
  • 万方数据
In paternity testing,when there are Mendelian errors in the alleles between the child and the parents,a slippage mutation,or silent allele may not fully explain the phenomenon.Sometimes,it is attributed to chromosomal abnormalities,such as uniparental disomy(UPD).Here,we present the investigation of two cases of suspected UPD in paternity testing based on short tandem repeat(STR)detection(capillary electrophoresis platform).Case 1 involves a trio,where all genotypes detected on chromosome 6 in the child are homozygous and found in the father.Case 2 is a duo(mother and child),where all genotypes on chromosome 3 in the child are homozygous and not always found in the mother.At the same time,Mendelian error alleles were also observed at specific loci in these two chromosomes.Furthermore,we used the MGIEasy Signature Identification Library Prep Kit for sequencing on the massively parallel sequencing platform,which included common autosomal,X and Y chromosomes,and mitochondrial genetic markers used in forensic practice.The results showed that the genotypes of shared STRs on the two platforms were consistent,and STRs and single nucleotide polymorphisms(SNPs)on these two chromosomes were homozygous.All other genetic markers followed the laws of inheritance.A comprehensive analysis supported the parent-child relationship between the child and the alleged parent,and the observed genetic anomalies can be attributed to UPD.UPD occurrences are rare,and ignoring its presence can lead to erroneous exclusions in paternity testing,particularly when multiple loci on a chromosome exhibit homozygosity.

forensic geneticspaternity testinguniparental disomySTRSNPMPS

He Ren、Zhiyong Liu、Chong Chen、Yan Shi、Jiarong Zhang、Ying Chen、Li Jia、Yacheng Liu、Jiangwei Yan

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Shanghai Key Lab of Forensic Medicine,Key Lab of Forensic Science,Ministry of Justice,Academy of Forensic Science,Shanghai,China

Beijing Police College,Beijing,China

Faculty of Forensic Medicine,Zhongshan School of Medicine,Sun Yat-sen University,Guangzhou,China

Beijing Tongda Shoucheng Institute of Forensic Science,Beijing,China

School of Forensic Medicine,Shanxi Medical University,Jinzhong,China

Fangshan Branch of Beijing Public Security Bureau,Beijing,China

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2024

10.1093/fsr/owae027

法庭科学研究(英文)
司法鉴定科学研究院

法庭科学研究(英文)

ISSN：2096-1790
年,卷(期)：2024.9(2)