Twenty Years Later: A Comprehensive Review of the X Chromosome Use in Forensic Genetics

Gomes, Iva; Pinto, Nádia; Antão-Sousa, Sofia; Gomes, Verónica; Gusmão, Leonor; Amorim, António

doi:10.3389/fgene.2020.00926

Cited by 49 publications

(73 citation statements)

References 124 publications

(158 reference statements)

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“…The use of biallelic marker like SNPs poses problem in result interpretation like in case of multiple donor interpretation because of overlap making it hard for personal identification. This is one of the reason behind lack of interest in exploring X chromosomal SNPs (GOMES et al, 2020).…”

Section: Other X Chromosomal Markersmentioning

confidence: 99%

X chromosomal analysis in population genetics and forensic science: A mini review

et al. 2021

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The human X chromosome analysis has been applied to decipher the genetic structure of populations for applications in medical genetics and for human identification, parentage analysis and kinship analysis. Although it has not been studied on vast level with regard to human populations with comparison to other of its counterparts like autosomal markers, Y chromosome and mtDNA yet it is important for great potential in studying oncology, various diseases and forensic science applications. In this mini review, a snapshot of X chromosomal properties as genetic marker has been entailed. The structure and potential multiplex oriented kits utilizing X chromosomal markers have been discussed. Moreover, concerns of different researchers over X chromosomal published data have been referred to point out need of analyzing X chromosomal markers to unravel their role in population genetics, medical genetics and human identification.

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Section: Other X Chromosomal Markersmentioning

confidence: 99%

X chromosomal analysis in population genetics and forensic science: A mini review

et al. 2021

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“…X-chromosome markers recombine along the whole chromosome during female meiosis in females and are transmitted to both female and male descendants, however, are entirely transmitted to female offspring in males ( Gomes I. et al, 2020 ). Due to their distinctive transmission properties, X-chromosome markers have emerged as a powerful complementary tool of parentage testing, especially in some special parentage cases such as “half-siblings”, “avuncular” or “grandparent-grandchild” ( Gomes et al, 2012 ).…”

Section: Introductionmentioning

confidence: 99%

Genetic Structure and Forensic Feature of 38 X-Chromosome InDels in the Henan Han Chinese Population

Zhang

Zhu

et al. 2022

Front. Genet.

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Insertion/deletion (InDel) polymorphisms, as ideal forensic markers, show useful characteristics of both SNPs and STRs, such as low mutation rate, short amplicon size and general applicability of genotyping platform, and have been used in human identification, population genetics and biogeographic research in recent years. X-chromosome genetic markers are significant in population genetic studies and indispensable complements in some complex forensic cases. However, the population genetic studies of X-chromosome InDel polymorphisms (X-InDels) still need to be explored. In this study, the forensic utility of a novel panel including 38 X-InDel markers was evaluated in a sample of Han population from Henan province in China. It is observed that the heterozygosities ranged from 0.0054 to 0.6133, and the combined discrimination power was 1–9.18 × 10−17 for males and 1–7.22 × 10−12 for females respectively. The mean exclusion chance in trios and duos were 0.999999319 and 0.999802969 respectively. Multiple biostatistics methods, such as principal component analysis, genetic distances analysis, phylogenetic reconstruction, and structure analysis was used to reveal the genetic relationships among the studied Henan Han group and other 26 reference groups from 1,000 Genomes Project. As expected, the Henan Han population was clustered with East Asian populations, and the most intimate genetic relationships existed in three Han Chinese populations from Henan, Beijing and South China, and showed significant differences compared with other continental groups. These results confirmed the suitability of the 38 X-InDel markers both in individual identification and parentage testing in Han Chinese population, and simultaneously showed the potential application in population genetics.

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“…In addition, autosomal STRs may not be effective in some deficiency paternity cases. Taking advantages of X-linked inheritance into consideration, X chromosome markers are of great value in some specific and deficient kinship cases especially when autosomal chromosome markers are uninformative, for instance, incest cases of father-daughter, some other paternity cases of grandmother-granddaughter as well as half-sisters (Szibor, 2007;Tillmar et al, 2017;Gomes et al, 2020). Different from STRs, InDel markers have a short amplicon size and low mutation rates, and simple analytical procedures are required (LaRue et al, 2012;Chen et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Development and Validation of a Forensic Multiplex System With 38 X-InDel Loci

et al. 2021

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In the present study, a novel multiplex system, AGCU X-InDel 38 kit, was designed to amplify 38 X-InDel markers and amelogenin in a single Polymerase Chain Reaction (PCR). To demonstrate the suitability and efficiency for forensic applications, a series of validation experiments were conducted, including sensitivity, species specificity, reproducibility, stability, case samples, balance of peak height, size precision, as well as allele frequency and forensic parameter analysis. The results showed that AGCU X-InDel 38 kit was capable to get full profiles even with 62.5 pg of template DNA, and full profiles can be obtained when hematin concentration ≤25 μmol/L, or hemoglobin concentration ≤50 μmol/L, showing good tolerance to six common inhibitors. Moreover, the analyzed case samples indicated that AGCU X-InDel 38 kit had better performance for degraded and trace DNA samples. The 200 unrelated males from Guangdong Han population showed that the combined PDMale and PDFemale were both more than 0.999999999, and the combined MECKrüger, MECKishida, and MECDesmarais Duo were 0.999369481, 0.999999917, and 0.999941556, respectively. Robust discrimination capability of this novel multiplex system could be demonstrated through the high values of forensic parameters. In conclusion, AGCU X-InDel 38 kit is sensitive, precise, reproducible, and highly informative and could be used as a complementary tool for complex and challenging kinship cases.

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Twenty Years Later: A Comprehensive Review of the X Chromosome Use in Forensic Genetics

Cited by 49 publications

References 124 publications

X chromosomal analysis in population genetics and forensic science: A mini review

X chromosomal analysis in population genetics and forensic science: A mini review

Genetic Structure and Forensic Feature of 38 X-Chromosome InDels in the Henan Han Chinese Population

Development and Validation of a Forensic Multiplex System With 38 X-InDel Loci

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