The amelogenin gene present in the X and the Y chromosomes of humans showed size differences between these two chromosomes and therefore, this gene has been used to differentiate males from females in forensic casework and prenatal diagnosis.

Human identification is an important forensic application and various strategies have been adopted to utilize the minimum quantity of sample to detect maximum variability in a single PCR reaction.

Various companies manufacture multiplex STR kits containing the amelogenin system for individual and gender identification, respectively. A study using one such kit by scientists at CCMB, Hyderabad including Dr. K. Thangaraj, Dr. A. G. Reddy and Dr. Lal Singh, showed a deletion of the amelogenin gene on the Y chromosome in five Indian males. But, for the detection of the presence of SRY and Y chromosome specific STRs, these individuals would have been identified as females.

In many forensic cases, sex identification is crucial and it is absolutely essential in rape cases where there is a possibility of contamination of DNA from both the victim and the culprit. Selection of markers is therefore very important in such cases to unambiguously identify the male and female DNA in a single reaction.

Sex identification of unborn children for prenatal diagnosis of diseases specifically affecting the male child, particularly in families with histories of such diseases, can be disastrous in the light of the present study. Any false sex assignment may lead to litigation.

Considering the consequences of the result obtained only using the amelogenin markers, the team has suggested the use of additional Y chromosome markers in the STR kits for unambiguous gender identification. CCMB team is the first to report the amelogenin deletion in the Indian population.