title: CCG polymorphisms in the huntingtin gene have no effect on the pathogenesis of patients with Huntington's disease in mainland Chinese families.
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.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, China. brzhang@zju.edu.cn
authors.forename: Bao-rong
authors.initials: BR
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Tian
authors.forename: Ya-ping
authors.initials: YP
authors.lastname: Yan
authors.forename: Xin-zhen
authors.initials: XZ
authors.lastname: Yin
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Zhi-ying
authors.initials: ZY
authors.lastname: Wu
authors.forename: Wei-hong
authors.initials: WH
authors.lastname: Gu
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002449:Cell Aggregation / Q000235:genetics; D002681:China / Q000453:epidemiology; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D057809:HEK293 Cells; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins