Background: The increasing number of samples from the biomedical genetic studies and the number of centers participating in the same involves increasing risk of mistakes in the different sample handling stages. We have evaluated the usefulness of the amelogenin test for quality control in sample identification.
Methods: Amelogenin test (frequently used in forensics) was undertaken on 1224 individuals participating in a biomedical study. Concordance between referred sex in the database and amelogenin test was estimated. Additional sex-error genetic detecting systems were developed.
Results: The overall concordance rate was 99.84% (1222/1224). Two samples showed a female amelogenin test outcome, being codified as males in the database. The first, after checking sex-specific biochemical and clinical profile data was found to be due to a codification error in the database. In the second, after checking the database, no apparent error was discovered because a correct male profile was found. False negatives in amelogenin male sex determination were discarded by additional tests, and feminine sex was confirmed. A sample labeling error was revealed after a new DNA extraction.
Conclusion: The amelogenin test is a useful quality control tool for detecting sex-identification errors in large genomic studies, and can contribute to increase its validity.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.cca.2007.07.020 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A BiO-Optimizing Site Targeted (BOOST) Approach to Periodontal Regeneration Through Local Doxycycline Prior to Surgery: A Randomized Clinical Trial.
J Periodontal Res
January 2025
Department of Surgical Sciences, C.I.R. Dental School, University of Turin, Turin, Italy.
Aim: To test a BiO-Optimizing Site Targeted (BOOST) approach to periodontal regeneration by the adjunctive use of locally delivered doxycycline (DOX) 2 weeks prior to minimally invasive surgery in terms of clinical and radiographic outcomes at 1 year.
Methods: For this randomized clinical trial, stage III/IV periodontitis patients presenting sites with intrabony defects and bleeding on probing (BoP+) after steps 1-2 of periodontal treatment were included. Sites were treated via subgingival instrumentation with or without a BOOST approach by local DOX.
Dental Anomalies in the Past: Fusion, Gemination, and Talon Cusp in Two Archeological Samples.
Int J Paediatr Dent
December 2024
Institut für Geowissenschaften, Goethe-Universität Frankfurt am Main, Frankfurt, Germany.
Background: Disruption in odontogenesis can influence the normal development of both deciduous and permanent dentition resulting in anomalies in morphology, number, and position of teeth. Although dental anomalies are frequently reported in clinical practice, their occurrence in past populations from archeological contexts is rarely acknowledged.
Aim: To describe two cases of dental anomalies on two non-adult individuals from Italian archeological sites.
Development of a PCR-based method to identify fetal sex during IVF cycles.
Zygote
August 2024
Reproductive Sciences and Technology Research Center, Department of Anatomy, Iran University of Medical Sciences, Tehran, Iran.
One of the most recognizable cases of preimplantation genetic diagnosis (PGD) is X-linked diseases. Diagnosis of fetal sex is essential for couples who are known to be at risk of some X-linked disorders. The objective of this study was to discriminate between female (XX) and male (XY) embryos by detecting sex chromosomes-specific sequences in spent culture medium and comparing these results to PGD/CGH array results.
View Article and Find Full Text PDFThe Potential of QP3VH-Chitosan Peptide as Biomimetic Remineralization in Early Dental Caries Treatment: An In Vitro Study.
Eur J Dent
October 2024
Department of Chemistry, Faculty of Mathematics and Natural Sciences, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Objectives: The development of remineralization biomimetics using organic peptide molecules is expected to resemble the hydroxyapatite (HA) mineralization process in tooth enamel. The development of an amelogenin derivative peptide combined with antimicrobial peptide was designed, resulting in QP3VH. This combination then was mixed with chitosan as a carrier.
View Article and Find Full Text PDFRole of amelogenin phosphorylation in regulating dental enamel formation.
Matrix Biol
August 2024
Department of Oral and Craniofacial Sciences, University of Pittsburgh School of Dental Medicine, 335 Sutherland Drive (UPSDM), Pittsburgh, PA 15260, USA; Center for Craniofacial Regeneration, UPSDM, Pittsburgh, PA, USA; Department of Periodontics and Preventive Dentistry, UPSDM, Pittsburgh, PA, USA. Electronic address:
Amelogenin (AMELX), the predominant matrix protein in enamel formation, contains a singular phosphorylation site at Serine 16 (S16) that greatly enhances AMELX's capacity to stabilize amorphous calcium phosphate (ACP) and inhibit its transformation to apatitic enamel crystals. To explore the potential role of AMELX phosphorylation in vivo, we developed a knock-in (KI) mouse model in which AMELX phosphorylation is prevented by substituting S16 with Ala (A). As anticipated, AMELX KI mice displayed a severe phenotype characterized by weak hypoplastic enamel, absence of enamel rods, extensive ectopic calcifications, a greater rate of ACP transformation to apatitic crystals, and progressive cell pathology in enamel-forming cells (ameloblasts).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!