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目的对帕金森病(PD)病人泛素-特异性蛋白酶24(USP24)基因的外显子(exon)39～68进行突变筛查,以进一步了解USP24基因是否为PD的致病基因。方法对中国湖南省92例散发PD病人USP24基因的exon39～68通过PCR产物直接测序法进行突变筛查。结果在exon39～68中未见任何碱基变异,在外显子-内含子交界区检测出11种变异,其中3种为已知多态(rs6588545、rs12031876和rs10493176),位于exon59的c.7078+22a>g变异仅在1例以强直为主要临床症状的早发男性PD病人中存在,在95例正常人中不存在此变异。结论在湖南地区的中国人群中,USP24基因位于exon39～68的基因突变可能在PD的发病机制中不起主要作用。
Objective To investigate the mutation of exon 39 ~ 68 of ubiquitin - specific protease 24 (USP24) gene in patients with Parkinson ’s disease (PD) to further understand whether the USP24 gene is the causative agent of PD. Methods 92 cases of exon39 ~ 68 of USP24 gene in PD patients in Hunan Province of China were screened by direct sequencing of PCR products. Results There was no base variation in exon39 ~ 68, and 11 variations were detected in the exon-intron junction. Three of them were known polymorphisms (rs6588545, rs12031876 and rs10493176), exon59 c.7078 + The variation of 22a> g was only found in one of the early PD male patients with empyema as the main clinical symptom, which was not present in 95 normal individuals. Conclusions In the Chinese population in Hunan Province, mutations in the gene USP24 at exon39-68 may not play a major role in the pathogenesis of PD.