A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. Export

@article{citeulike:2653560, abstract = {PCR amplification of part of the X-Y homologous amelogenin gene with a single primer pair has been used as a sex identification test because it generates different length products from the X and Y chromosomes. Using a commercially available kit that contains amelogenin primers, we report a single phenotypically normal Caucasian male out of 327 males tested to date that failed to show an X chromosome-specific PCR product. Using alternative amelogenin primers external to but encompassing the initial amplicon, an X chromosome-specific product was seen. Sequence analysis of this X-specific PCR product revealed a C to G mutation at the most 3' base of the initial reverse amelogenin PCR primer. An alternative reverse PCR primer with this most 3' base deleted showed X- and Y-specific products from the case study male. Rare mutations that result in a failure to amplify sex chromosome-specific products can result in incorrect gender identification.}, address = {Department of Clinical Pathology/L30, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.}, author = {Shadrach, B. and Commane, M. and Hren, C. and Warshawsky, I.}, citeulike-article-id = {2653560}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/15507681}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=15507681}, issn = {1525-1578}, journal = {The Journal of molecular diagnostics : JMD}, keywords = {amelogenin, forensic, sex-identification}, month = {November}, number = {4}, pages = {401--405}, posted-at = {2008-04-11 12:46:27}, priority = {2}, title = {A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/15507681}, volume = {6}, year = {2004} }

TY - JOUR ID - citeulike:2653560 L3 - citeulike-article-id:2653560 N2 - PCR amplification of part of the X-Y homologous amelogenin gene with a single primer pair has been used as a sex identification test because it generates different length products from the X and Y chromosomes. Using a commercially available kit that contains amelogenin primers, we report a single phenotypically normal Caucasian male out of 327 males tested to date that failed to show an X chromosome-specific PCR product. Using alternative amelogenin primers external to but encompassing the initial amplicon, an X chromosome-specific product was seen. Sequence analysis of this X-specific PCR product revealed a C to G mutation at the most 3' base of the initial reverse amelogenin PCR primer. An alternative reverse PCR primer with this most 3' base deleted showed X- and Y-specific products from the case study male. Rare mutations that result in a failure to amplify sex chromosome-specific products can result in incorrect gender identification. IS - 4 JF - The Journal of molecular diagnostics : JMD SN - 1525-1578 AD - Department of Clinical Pathology/L30, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA. EP - 405 TI - A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. VL - 6 SP - 401 KW - amelogenin KW - forensic KW - sex-identification AU - Shadrach, B AU - Commane, M AU - Hren, C AU - Warshawsky, I PY - 2004/11// UR - http://view.ncbi.nlm.nih.gov/pubmed/15507681 ER -