The R1205H mutation in the eukaryotic translation initiation factor 4G1 (EIF4G1) gene and the D620N mutation in the vacuolar protein sorting 35 (VPS35) gene were recently found in patients with autosomal dominant or sporadic forms of Parkinson's disease (PD). In the present study, 418 South African PD patients and 528 control subjects of diverse ethnicities were screened using the KASP (Kompetitive Allele Specific PCR) genotyping assay. The mutations were not found in our study, suggesting that they are not a common cause of PD in South African patients. Further studies are needed on the frequency of these 2 mutations in other sub-Saharan African populations.

译文

最近在常染色体显性或散发性帕金森氏病 (PD) 患者中发现了真核翻译起始因子4G1 (EIF4G1) 基因中的R1205H突变和液泡蛋白分选35 (VPS35) 基因中的D620N突变。在本研究中,使用KASP (Kompetitive等位基因特异性PCR) 基因分型试验筛选了418名南非PD患者和528不同种族的对照受试者。在我们的研究中未发现这些突变,这表明它们不是南非患者PD的常见原因。需要进一步研究这两种突变在其他撒哈拉以南非洲人群中的频率。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录