Authors: Yan Ma JinZhi Kuang Ji Zhang GuiMin Wang YuJian Wang WeiMin Jin YiPing Hou
Publish Date: 2012/06/06
Volume: 126, Issue: 5, Pages: 713-724
Abstract
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 AMELbased gender detection could misidentify a known male as a female due to the dropout of amelogenin Y AMELY allele Other gender markers such as Ychromosomal short tandem repeat YSTR may be a substitution of AMEL and help the sex determination In current study employing AmpFlSTR® Sinofiler and AmpFlSTR® Yfiler™ PCR Amplification kit 18 AMELYnegative males were identified Accordingly the incidence of the AMELY dropout was 0227 ‰ 18/79304 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 primerbinding 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 YSTRs deletions were also observed Our data suggested that YSTR 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 YSTR deletions can be classified as the J2 subdivision suggesting that some of these Y chromosomes might descend from a common ancestor
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