[应用重组DNA技术检测MJD1基因的CAG三核苷酸重复序列]

[Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology].

作者信息

Zhang Shen, Wang Jun-ling, Xu Qian, Li Xiao-hui, Lei Li-fang, Jiang Hong, Shen Lu, Yan Xin-xiang, Pan Qian, Xia Kun, Tang Bei-sha

机构信息

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P.R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):406-9.

PMID:20017304

Abstract

OBJECTIVE

To establish a stable, accurate and intuitive method for detecting the CAG trinucleotide repeats of MJD1 gene.

METHODS

The CAG trinucleotide polymorphism of the MJD1 gene was analyzed by recombinant DNA technology and DNA sequencing in 35 spinocerebellar ataxia 3/Machado-Joseph disease (SCA3/MJD) patients from Mainland China.

RESULTS

The range of the CAG repeat of the 35 patients was 65-81 (mean = 72.96 +/- 4.24). The CAG repeats contained two CAAs and one AAG variations in the CAG motif in all the patients and majority of the healthy controls. There was a CGG/GGG polymorphism at the 3' end of the CAG repeat. The GGG allele was consistently associated with smaller CAG repeats in healthy controls. On the other hand, the CGG allele consistently existed in the patients.

CONCLUSION

Recombinant DNA technology can stably, accurately and intuitively detect the CAG trinucleotide repeat of the MJD1 gene. It should be used as a major technique to diagnose the SCA3/MJD and analyze the polymorphism of CAG sequence.

摘要

目的

建立一种稳定、准确且直观的检测MJD1基因CAG三核苷酸重复序列的方法。

方法

采用重组DNA技术和DNA测序法，对来自中国大陆的35例脊髓小脑共济失调3型/马查多-约瑟夫病（SCA3/MJD）患者的MJD1基因CAG三核苷酸多态性进行分析。

结果

35例患者的CAG重复序列范围为65-81（平均值=72.96±4.24）。所有患者及大多数健康对照者的CAG重复序列在CAG基序中均包含两个CAA和一个AAG变异。CAG重复序列的3'端存在CGG/GGG多态性。在健康对照者中，GGG等位基因始终与较小的CAG重复序列相关。另一方面，CGG等位基因始终存在于患者中。