Author/Authors :
Chacko, Jacob P. Sultan Qaboos University Hospital - Department of Neurology and Biochemistry , Muralitharan, Shanmugakonar Sultan Qaboos University - College of Science - Biology Department, Oman , Al-Ansari, Alia Sultan Qaboos University - College of Science - Biology Department, Oman , Al-Kharusi, Khalsa Sultan Qaboos University Hospital - Department of Neurology and Biochemistry , Al-Asmi, Abdullah Sultan Qaboos University Hospital - Department of Neurology and Biochemistry , Pratap, Chand R. Sultan Qaboos University Hospital - Department of Neurology and Biochemistry , Bayoumi, Riad Sultan Qaboos University Hospital - Department of Neurology and Biochemistry
Abstract :
Objective: To explore the profile ofcytosine/adenine/guanine (CAG) repeat expansion inOmani spinocerebellar ataxia (SCA) patients.Methods: Ten SCA patients attending the SultanQaboos University Hospital Neurologic clinics,Al-Khoud, Oman in the 3 years starting from January2000 were recruited for this study. Genomic DNA wasextracted from peripheral blood samples and CAG repeatexpansion analysis was carried out by polymerase chainreaction and sequencing, when required.Results: The CAG triplet repeats leading topolyglutamine expansion and neurodegeneration are seenin spinocerebellar ataxias 1, 2, 3, 6, 7 and 17. By usingprimers for SCA 1, 2, 3 and 7, we found the repeats werein the normal range and triplet repeats do not seem to bea common cause for ataxia in Oman.Conclusion: Spinocerebellar ataxia in Oman has thenormal range of CAG repeats for the commonly foundSCA1, SCA2, SCA3 and SCA7.
