Abstract
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)Keywords
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Article info
Publication history
Published online: August 29, 2011
Accepted:
August 8,
2011
Received in revised form:
August 4,
2011
Received:
April 1,
2011
Identification
Copyright
© 2011 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
