脊髓小脑性共济失调DNA规范化检测流程的建立  

Standardization of the experimental protocol of genetic testing: the DNA testing of spinocerebellar ataxia

作　　者：丁晔[1] 谭建强 华荣[3] 王进[1] 罗曼[1] 舒伟[1] 陆俊佳[1] 袁志刚[1] 

机构地区：[1]广西医科大学基础医学院,南宁530021 [2]柳州妇女儿童保健院,广西545001 [3]广西壮族自治区人口和计划生育研究中心

出　　处：《中国临床新医学》2011年第6期502-506,共5页CHINESE JOURNAL OF NEW CLINICAL MEDICINE

基　　金：广西自然科学基金资助项目(编号:桂科攻0632007-1B)

摘　　要：目的探讨建立遗传病检测规范化的实验流程,以避免因实验流程不规范造成的失误。方法以脊髓小脑性共济失调3型(spinocerebellar ataxia type 3,SCA3)为例,应用PCR和测序等技术检测其基因型,并对标本采集、结果诠释、保存和个人遗传信息的保护等方面做了详细的描述。结果所检测的6个家系21例患者的CAG均出现异常扩增,他们的基因型与临床诊断吻合。结论遗传检测实验流程的规范化在受检者的基因隐私得到保护的情况下,不仅可以作为某些疾病诊断的依据,还能综合评估受检者的患病风险程度,对于疾病的早期预防具有重要积极的意义。Objective To establish the standard experimental protocol for the genetic testing of spinocerebellar ataxia（SCA） in order to avoid any mistake. Methods Taking spinocerebellar ataxia 3 （ SCA3 ） as examlpe the genetypes of the patients were tested with PCR, sequencing, and the collection of the samples, the interpretation of the results and the protection of proprietary genetic information etc. were described in detail. Results The abnormal amplifications of CAG repeats were present in SCA3 among 21 patients with SCA3 from 6 families. Conclusion The standardization of experimental protocol of genetic testing can not only serve as basis of diagnose in some diseases, only when proprietary gene data of the subject is kept with strict secrecy ,but estimate the dangerous degree of suffering from disease, and has important and positive significance for early precaution of the disease.

关 键 词：脊髓小脑性共济失调 DNA检测 规范化 

分 类 号：R394.3[医药卫生—医学遗传学]