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目的探讨PARKIN基因与中国人常染色体隐性遗传早发型帕金森病(autosomal recessive ear-ly-onset Parkinson’s disease,AREP)家系的关系。方法对3个AREP家系的6例患者和23位成员进行系统的临床检查并进行PARKIN基因PCR扩增,产物通过变性高压液相色谱(denaturing high-performance liquidchromatography,DHPLC)进行突变检测,阳性结果标本进行基因测序。结果所有研究对象的PARKIN基因外显子均扩增成功。DHPLC检测和基因测序发现一个家系中存在PARKIN基因杂合Gly284Arg突变,另一个家系中存在PARKIN基因Ser167Asn多态性,且患者均有环境毒物接触史。结论PARKIN基因杂合Gly284Arg突变在环境因素的协同作用下可能导致发病。PARKIN基因Ser167Asn多态性是帕金森病的易感因素,汞中毒与其共同作用可能导致发病。
Objective To investigate the relationship between PARKIN gene and Chinese autosomal recessive ear-ly-onset Parkinson’s disease (AREP). Methods Six patients and 23 members of three AREP families were systematically and routinely examined by PCR. The products were detected by denaturing high-performance liquid chromatography (DHPLC). The positive results Gene sequencing. Results The PARKIN gene exons of all the subjects were successfully amplified. DHPLC detection and gene sequencing found that there is PARKIN gene heterozygous Gly284Arg mutation in one pedigree, and PARKIN gene Ser167Asn polymorphism exists in another pedigree. All patients have history of exposure to environmental toxicants. Conclusion The PARKIN gene heterozygous Gly284Arg mutation may cause the disease under the synergistic effect of environmental factors. PARKIN gene Ser167Asn polymorphism is a predisposing factor of Parkinson’s disease, mercury poisoning and its interaction may lead to the disease.