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Huntington's Disease: Relationship Between Phenotype and Genotype 期刊论文

编号：

b1da1a9a-799f-436e-9785-5124b63c51fd
作者：

Sun, YiMin(孙一忞)#^[1,2]Zhang, YanBin^[3,4,5,6,7];Wu, ZhiYing^[3,4,5];
语种：

English
期刊：

MOLECULAR NEUROBIOLOGY ISSN：0893-7648 2017 年 54 卷 1 期 (342 - 348) ; JAN
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关键词：

Huntington's disease Genotype Phenotype Huntingtin
摘要：

Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and behavior disorders, and cognitive impairment. It is caused by the dynamic mutation in CAG triplet repeat number in exon 1 of huntingtin (HTT) gene. The symptoms of HD especially the age at onset are related to the genetic characteristics, both the CAG triplet repeat and the modified factors. Here, we reviewed the recent advancement on the genotype-phenotype relationship of HD, mainly focus on the characteristics of different expanded CAG repeat number, genetic modifiers, and CCG repeat number in the 3' end of CAG triplet repeat and their effects on the phenotype. We also reviewed the special forms of HD (juvenile HD, atypical onset HD, and homozygous HD) and their phenotype-genotype correlations. The review will aid clinicians to predict the onset age and disease course of HD, give the genetic counseling, and accelerate research into the HD mechanism.
推荐引用方式
GB/T 7714：

Sun Yi-Min,Zhang Yan-Bin,Wu Zhi-Ying, et al. Huntington's Disease: Relationship Between Phenotype and Genotype [J].MOLECULAR NEUROBIOLOGY,2017,54(1):342-348.
APA：

Sun Yi-Min,Zhang Yan-Bin,Wu Zhi-Ying.(2017).Huntington's Disease: Relationship Between Phenotype and Genotype .MOLECULAR NEUROBIOLOGY,54(1):342-348.
MLA：

Sun Yi-Min, et al. "Huntington's Disease: Relationship Between Phenotype and Genotype" .MOLECULAR NEUROBIOLOGY 54,1(2017):342-348.

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