Sex determination problems in forensic genetic analysis Lilia Laverde  Forensic Science International: Genetics Supplement Series  Volume 4, Issue 1, Pages e350-e351 (January 2013) DOI: 10.1016/j.fsigss.2013.10.178 Copyright © 2013 Elsevier Ireland Ltd Terms and Conditions

Fig. 1 In male Y-null case (a) the Y component of amelogenin is not observed with a first autosomic STRs kit. In contrast, in male X-null case (b) the X component of amelogenin is not showed but there are a SRY quantification result (c) that is confirmed with Y-STRS typification of the sample (d) and when is typified with other kit with different amelogenin primers, the Y-amelogenin or X-amelogenin components appear (e). This first case could be related with deletions on the chromosome encompassing the AMELY. Chang et al. [4] report amelogenin negative males and absence of the some Y-STRS markers indicating a large Y deletion. In the second case, the most possible explanation is point mutations in the amelogenin-priming sites [5]. Forensic Science International: Genetics Supplement Series 2013 4, e350-e351DOI: (10.1016/j.fsigss.2013.10.178) Copyright © 2013 Elsevier Ireland Ltd Terms and Conditions

Fig. 2 In the red box (a) the quantification of total human (autosomal) and human male (Y) DNA was showed (4:1 ratio). A possible result in the amelogenin marker typification is like to (b). In this case, a mistake in the amelogenin result (XX) is easily made by the minor male component not observed in the mix sample to less than other autosomal (c) and Y-STRs (d) results are observed. This kind of result in the amelogenin could be confused with that obtained in an individual with aneuploidy. By other way, there are a high proportion of degraded samples analyses, principally bones used to identification of human rests. Only in the 20%, the amelogenin was not typified (e). In the other 80%, the amelogenin marker was detected (f). This could be related with the fragments lengths of the amplified markers that are shorts in the majority of kits, ideal condition in degraded samples to orientate the sex of the human rests. Forensic Science International: Genetics Supplement Series 2013 4, e350-e351DOI: (10.1016/j.fsigss.2013.10.178) Copyright © 2013 Elsevier Ireland Ltd Terms and Conditions