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http://purl.uniprot.org/citations/22669323http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22669323http://www.w3.org/2000/01/rdf-schema#comment"Short tandem repeat (STR) multiplexes with the amelogenin (AMEL) gene as a gender marker have been used as a routine tool of forensic DNA analysis. It has been reported that AMEL-based gender detection could misidentify a known male as a female due to the dropout of amelogenin Y (AMELY) allele. Other gender markers, such as Y-chromosomal short tandem repeat (Y-STR), may be a substitution of AMEL and help the sex determination. In current study, employing AmpFlSTR® Sinofiler and AmpFlSTR® Y-filer™ PCR Amplification kit, 18 AMELY-negative males were identified. Accordingly, the incidence of the AMELY dropout was 0.227 ‰ (18/79,304) in Chinese population. Sequencing of AMELY allele and analyzing of azoospermia factors region suggested that 3 out of 18 misidentifications were induced by mutations in the primer-binding region of the AMELY, while other 15 sex misidentifications were results of Y chromosome microdeletions with variant lengths. Moreover, variant combination patterns of AMELY dropout and Y-STRs deletions were also observed. Our data suggested that Y-STR locus dropout may indicate more problems, especially in the mixed sample's interpretation. Results of haplogroup prediction showed that seven AMELY dropouts combined with variant Y-STR deletions can be classified as the J2 subdivision, suggesting that some of these Y chromosomes might descend from a common ancestor."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.org/dc/terms/identifier"doi:10.1007/s00414-012-0720-8"xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/author"Ma Y."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/author"Zhang J."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/author"Wang Y.J."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/author"Hou Y.P."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/author"Wang G.M."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/author"Jin W.M."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/author"Kuang J.Z."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/date"2012"xsd:gYear
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/name"Int J Legal Med"xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/pages"713-724"xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/title"Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals."xsd:string
http://purl.uniprot.org/citations/22669323http://purl.uniprot.org/core/volume"126"xsd:string
http://purl.uniprot.org/citations/22669323http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/22669323
http://purl.uniprot.org/citations/22669323http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/22669323
http://purl.uniprot.org/uniprot/#_Q99218-mappedCitation-22669323http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22669323
http://purl.uniprot.org/uniprot/Q99218http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/22669323