A Study on Molecular Epidemiology and Prevention of Onset of Late-onset Ornithine Transcarbamylase Deficiency in Male Patients

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We designed the present research to develop a screening system for presymptomatic identification of patients carrying R40H mutation in the human ornithine transcarbamylase (OTC) gene and to develop possible strategy to prevent the onset of the disease. We first tried a method to differentiate the mutant allele from wild one on the basis of difference in Tm values between the two alleles, employing a polymerase chain reaction (PCR) method. The PCR products were successfully amplified under the conditions employed and the two alleles exhibited different. However, the difference in the Tm value was not necessarily large enough to differentiate them from each other. We therefore tried to devise an ARMS method and development of this technology is being developed currently.