Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of an X-Y homologous region.

A polymerase chain reaction (PCR) technique applicable for sex identification is described. The technique amplifies a part of the X-Y homologous amelogenin gene in which the Y counterpart has a 189 bp deletion within one of the introns. To evaluate the value of PCR of a X-Y homologous region in sex determination, individuals with ambiguous genitalia were selected for study. By identification of the X and Y sequences based on the difference in their sizes, sex determination could be successfully made.