Higher Failures of Amelogenin Sex Test in an Indian Population Group

• Published in: Journal of forensic sciences 2003-11, Vol.48 (6), p.1-5
• Main Authors: Chang, YM, Burgoyne, LA, Both, K
• Format: Article
• Language: English
• Subjects: Alleles; Amelogenin; China - ethnology; Chromosomes, Human, Y; Dental Enamel Proteins - genetics; DNA Fingerprinting - methods; Ethnic Groups - genetics; Forensic sciences; Gene Deletion; Genetic testing; Genetics, Population; Humans; India - ethnology; Malaysia - ethnology; Male; Sex Determination Processes; Tandem Repeat Sequences; Tooth Germ
• ISSN: 0022-1198; 1556-4029
• DOI: 10.1520/JFS2003018

The human sex test in forensic multiplexes is based on the amelogenin gene on both the X and Y chromosomes commonly used in sex genotyping. In this study of 338 male individuals in a Malaysian population comprising Malays, Chinese and Indians, using the AmpFCSTR® Profiler Plus™ kit, the amelogenin test gave a significant proportion of null alleles in the Indian ethnic group (3.6% frequency) and 0.88% frequency in the Malay ethnic group due to a deletion of the gene on the Y chromosome. This sex test also failed in a forensic casework sample. Failure of the amelogenin test highlights the need for more reliable sex determination than is offered by the amelogenin locus in the Malay and Indian populations. The gender of the Indian-Malay amelogenin nulls was confirmed by the presence of three Y-STR alleles (DYS438, DYS390 and DYS439). For the Indian ethnic group, one of the Y-STR forms a stable haplotype with the amelogenin null. The amelogenin-deletion individuals also showed a null with a male-specific minisatellite MSY1, indicating that a very large deletion was involved that included the amelogenin and the MSY1 loci on the short arm of the Y chromosomes (Yp).