Amelogenin test: From forensics to quality control in clinical and biochemical genomics.
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.


CONCLUSIONS
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.
Francès
F
F
Department of Preventive Medicine, Public Health and Legal Medicine, University of València, València, Spain. francesc.frances@uv.es
Portolés
O
O
González
J I
JI
Coltell
O
O
Verdú
F
F
Castelló
A
A
Corella
D
D
D053523:Amelogenin / Q000032:analysis* / Q000235:genetics*; D004247:DNA / Q000032:analysis* / Q000737:chemistry; D030561:Databases, Nucleic Acid; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005554:Forensic Medicine / Q000379:methods*; D023281:Genomics; D006801:Humans; D008297:Male; D011786:Quality Control; D016032:Randomized Controlled Trials as Topic; D015203:Reproducibility of Results; D012732:Sex Determination Analysis / Q000379:methods*
D053523:Amelogenin; D004247:DNA