首页> 外文OA文献 >Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease
【2h】

Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

机译:两个中国家族性帕金森病谱系的易感基因分析

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务,本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文,但由于OA文献来源多样且变更频繁,仍可能出现获取不到、文献不完整或与标题不符等情况,如果获取不到我们将提供退款服务。请知悉。

摘要

Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD). Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase chain reaction (PCR) technique. The gene dose of SNCA was checked. Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs. Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be detected in FDP patients in China.
机译:目的。要筛选中国谱系中与早发家族性帕金森病(FPD)相关的易感基因。方法。从两个具有FPD的中国血统谱系中提取了51个基因组DNA样本:α-突触核蛋白基因(SNCA),富含亮氨酸的重复激酶2(LRRK2),PINK1(PTEN诱导的假定激酶1),PARK7(蛋白质DJ1),使用聚合酶链反应(PCR)技术对PARK2(帕金森氏青少年疾病蛋白2),葡萄糖脑苷脂酶(GBA)和ATP(埃兹林结合蛋白PACE-1)进行测序。检查了SNCA的基因剂量。结果。在LRRK2的第5外显子和PARK2的第10外显子上分别仅观察到两个错义突变,并且都被纳入了SNP中。结论。在中国的FDP患者中,没有检测到有意义的突变,还应该检测其他易感基因。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号