Huntington's disease (HD) is caused by the abnormal expansion of CAG repeats in the huntingtin gene (HTT). The adjacent proline-rich region, which also has a CCG polymorphism among people of different races, may also affect the pathogenesis of HD. To study the effect of this polymorphism on patients with HD in mainland China, 53 HD mutant alleles were examined. The results showed that 54.72% of the HD mutant alleles had 10-repeat alleles, and the remaining 45.28% had 7-repeat alleles. Moreover, comparison of the clinical features between the two groups revealed no significant difference. We also investigated its effect on the aggregates in vitro. No significant difference was detected when the morphology and size of the aggregates with the two polymorphisms was compared in cells. Given these findings, it was quite reasonable to suppose that the CCG polymorphism may not influence the pathogenesis of patients with HD in mainland China.
Abbreviations:HD (Huntington's disease), polyQ (polyglutamine), htt (huntingtin(protein)), HTT (huntingtin(gene)), HEK293T (human embryonic kidney 293T cells), PCR (polymerase chain reaction), GFP (green fluorescent protein), DMEM (Dulbecco's modified Eagle's medium), FBS (fetal bovine serum), DAPI 4′ (6-diamidino-2-phenylindole)
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Published online: August 29, 2011
Accepted: August 8, 2011
Received in revised form: August 4, 2011
Received: April 1, 2011
© 2011 Elsevier B.V. Published by Elsevier Inc. All rights reserved.