A distinct Y-STR haplotype for Amelogenin negative males characterized by a large Y(p)11.2 (DYS458-MSY1-AMEL-Y) deletion

The use of STR multiplexes with the incorporated gender marker Amelogenin is common practice in forensic DNA analysis. However, when a known male sample shows a dropout of the Amelogenin Y-allele, the STR system falsely genotypes it as a female. To date, our laboratory has observed 18 such cases: 12 from our Y-STR database and six from casework. A study on 980 male individuals in the Malaysian population using the AmpFlSTR Y-filer has revealed a distinct Y-chromosome haplotype associated with the Amelogenin nulls. Our results showed that whilst the Amelogenin nulls were noticeably absent among the Chinese, both the Indians and Malays exhibited such mutations at 3.2 and 0.6%, respectively. It was also found that the Amelogenin negative individuals predominantly belonged to the J2e lineage, suggesting the possibility of a common ancestor for at least some of these chromosomes. The null frequencies showed concordance with the data published in Chang et al. [Higher failures of Amelogenin sex test in an Indian population group, J. Forensic Sci. 48 (2003) 1309-1313] on a smaller Malaysian population of 338 males which used a Y-STR triplex. In the current study, apart from the absence of the Amelogenin Y-locus, a complete absence of the DYS458 locus in all the nulls was also observed. This study together with the 2003 study has indicated a similar deletion region exists on the Y(p)11.2 band in all the 18 Y-chromosomes. Using bioinformatics, this deletion has been mapped to a region of at least 1.13 Mb on the Y(p)11.2 encompassing the Amelogenin, MSY1 minisatellite and DYS458 locus. Further, the Y-filer haplotypes revealed an additional null at Y-GATA H4 in two of the Indian males presented here.     

Perianal and vulvar Crohn's disease presenting as suspected abuse

Misdiagnosis of sexual abuse may arise in cases of vulvar and/or perianal diseases such as lichen sclerosus et atrophicus, Behcet's syndrome, bullous diseases, contact dermatitis, or neoplastic lesions. We present the case of a 7-year-old girl who was referred by her general paediatrician to the local hospital for perianal fissures and swelling of the labia majora. A report to the judicial authorities was made, for suspected sexual abuse, and the patient was transferred to the department of paediatric surgery. Here, histopathologic examination of vulvar and rectal biopsies revealed multiple non-caseating and non-confluent epithelioid-gigantocellular granulomas, consistent with a diagnosis of Crohn's disease, with cutaneous involvement of the genitalia. In cases of suspected sexual abuse, examination of children should be performed by a specialist in legal medicine in collaboration with a gynaecologist or paediatric surgeon. If the patient is hospitalised and the question of protection does not arise, physicians should exclude dermatological diseases before reporting to the judicial authorities.     

Intimate partner violence and HIV/STD risk among lesbian, gay, bisexual, and transgender individuals

To date, there has been little research examining HIV/STD risk among lesbian, gay, bisexual, and transgender (LGBT) individuals who are in abusive relationships. This article uses data collected from a community-based organization that provides counseling for LGBT victims of intimate partner violence (IPV). A total of 58 clients completed the survey, which inquired as to sexual violence and difficulties negotiating safer sex with their abusive partners. A large percentage of participants reported being forced by their partners to have sex (41%). Many stated that they felt unsafe to ask their abusive partners to use safer sex protection or that they feared their partners' response to safer sex (28%). In addition, many participants experienced sexual (19%), physical (21%), and/or verbal abuse (32%) as a direct consequence of asking their partner to use safer sex protection. Training counselors on issues of sexuality and safer sex will benefit victims of IPV.