ArticleInternational journal of legal medicine2012
Null alleles of the X and Y chromosomal amelogenin gene in a Chinese population.
Article in International journal of legal medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 41 citations in OpenAlex.
- Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report.Frontiers in genetics · 2024Article
- Comparing Walker's (2008) skull trait sex estimation standard to proteomic sex estimation for a group of South Asian individuals.Forensic science international. Synergy · 2024Article
- Amplification Failure of the Amelogenin X Gene Caused by a Rare Mutation in the Primer-Binding Region.Genes · 2023Article
- A novel mutation at the AMEL primer binding region on the Y chromosome in AMELY negative male.International journal of legal medicine · 2022Article
- Brother-brother or father-son? How a dropout of AmelX may facilitate the elucidation of a familial relationship.International journal of legal medicine · 2020Article
- Alternatives to amelogenin markers for sex determination in humans and their forensic relevance.Molecular biology reports · 2020Review
- Validation of the AGCU Expressmarker 16 + 22Y Kit: a new multiplex for forensic application.International journal of legal medicine · 2020Article
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- A novel method for sex determination by detecting the number of X chromosomes.International journal of legal medicine · 2015Article
- Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.International journal of legal medicine · 2012Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The use of amelogenin locus typing as a gender marker incorporated in short tandem repeat (STR) multiplexes is a common practice in sex typing. Mutations in the X or Y homologue of the amelogenin gene can be misleading and result in serious mistakes in forensic applications and prenatal diagnosis. In these present studies, the amelogenin gene of 8,087 unrelated male individuals from Chinese Han population was genotyped with Powerplex(®)16 system. The samples that showed discordant results were taken for frequency calculation and further validated by re-amplification with different primer sets, Y-STR typing, and sequencing. Our results describe six amelogenin X-allele (AMELX) or amelogenin Y-allele (AMELY) null cases in these studied subjects with an overall prevalence of 0.074%. Further validation revealed point mutations in the amelogenin-priming sites associated with AMELX nulls (three cases, 0.037%) and deletions on the Y chromosome encompassing the AMELY and other Y-STR loci with three AMELY nulls (0.037%). These mutations and failure of the amplification of the AMELX and AMELY alleles have not been reported for the Chinese population. These and previous findings suggest that mutations in the amelogenin gene may result in amplification failure of the AMELX or AMELY allele, and an additional gender test for unambiguous sex determination may be needed.
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