ArticleInternational journal of legal medicine2009
"GenderPlex" a PCR multiplex for reliable gender determination of degraded human DNA samples and complex gender constellations.
Article in International journal of legal medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 41 citations in OpenAlex.
- Forensic evaluation of the reliability and validity of XIST and RPS4Y1 RNA biomarkers as sex discriminators for touch samples.Molecular biology reports · 2026Article
- Diversification of Pakistani Amelogenin-Y-Null Male Haplotypes.Scientifica · 2021Article
- A novel method of male sex identification of human ancient skeletal remains.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2020Article
- Alternatives to amelogenin markers for sex determination in humans and their forensic relevance.Molecular biology reports · 2020Review
- Inter-laboratory study on standardized MPS libraries: evaluation of performance, concordance, and sensitivity using mixtures and degraded DNA.International journal of legal medicine · 2020Article
- Genetic sex determination assays in 53 mammalian species: Literature analysis and guidelines for reporting standardization.Ecology and evolution · 2018Article
- Article
- A novel method for sex determination by detecting the number of X chromosomes.International journal of legal medicine · 2015Article
- Comparison of morphological and molecular genetic sex-typing on mediaeval human skeletal remains.Forensic science international. Genetics · 2013Article
- Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.International journal of legal medicine · 2012Article
- Genetic examination of the putative skull of Jan Kochanowski reveals its female sex.Croatian medical journal · 2011Article
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Authors and funding
3 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The amelogenin test integrated in most commercial polymerase chain reaction (PCR) multiplex kits is routinely used in the forensic field for gender determination of DNA samples. It has been demonstrated that this test is not entirely reliable. Males with deletions in the homologous amelogenin part on the Y chromosome (AMELY) were erroneously typed as females due to lack of Y-specific amelogenin amplification. Also, primer binding site mutations that result in a failure to amplify the AMELY or the X-chromosomal part (AMELX) have been observed. For clarification of such phenomena, a new PCR multiplex (GenderPlex) is presented, co-amplifying two different regions of the amelogenin gene (55/58 and 106/112 bp for the AMELX and AMELY alleles, respectively), a 93-bp sequence stretch of the SRY gene and four mini-X-STR loci DXS7424, DXS8378, DXS6803 and GATA172D05 (maximum product size less than 140 bp). This strategy helps with the evaluation of samples for the presence of amelogenin-based primer site mutations and confirms a male genotype by the absence of heterozygote X-STR alleles and the presence of an SRY-related peak. The short amplicon sizes of all involved loci proved to be beneficial in a study on artificially degraded DNA. Furthermore, we demonstrate by means of sensitivity, human specificity and mixture studies that the multiplex is suitable for investigations in the forensic scene. Finally, the performance of the GenderPlex was evaluated on a west Eurasian population sample from Austria comprising 166 male and 104 female individuals.
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