Trinucleotide repeat analysis of spinocerebellar ataxia patients in Oman
Jacob P Chacko1, Shanmugakonar Muralitharan, Alia Al-Ansari
1Department of Neurology and Biochemistry, Sultan Qaboos University Hospital, Al-Khoud, Muscat, Sultanate of Oman.
Objective:
To explore the profile of cytosine/adenine/guanine (CAG) repeat expansion in Omani spinocerebellar ataxia (SCA) patients.
Methods:
Ten SCA patients attending the Sultan Qaboos University Hospital Neurologic clinics, Al-Khoud, Oman in the 3 years starting from January 2000 were recruited for this study. Genomic DNA was extracted from peripheral blood samples and CAG repeat expansion analysis was carried out by polymerase chain reaction and sequencing, when required.
Results:
The CAG triplet repeats leading to polyglutamine expansion and neurodegeneration are seen in spinocerebellar ataxias 1, 2, 3, 6, 7 and 17. By using primers for SCA 1, 2, 3 and 7, we found the repeats were in the normal range and triplet repeats do not seem to be a common cause for ataxia in Oman.
Conclusion:
Spinocerebellar ataxia in Oman has the normal range of CAG repeats for the commonly found SCA1, SCA2, SCA3 and SCA7.
