帕金森病病人USP24基因外显子39～68突变筛查

MUTATION SCREENING OF USP24 GENE EXON IN PATIENTS WITH PARKINSON DISEASE

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 screen the exon39-68 of USP24 gene in patients with Parkinson disease（PD）and further understand whether it is the cause of the condition.Methods Mutation screening of exons39-68 of USP24 was undertaken in 92 sporadic PD patients of Hu＇nan.Results No any basic variations were detected in exons39-68;11 variants were identified in the exon-intron boundaries,in which,three of them were known polymorphisms（rs6588545,rs12031876 and rs10493176）.The mutation locating at c.7078＋22 a〉g of exon59 was found in only one early-onset male patient with main clinical symptom of stiffness,this variation was not found in 95 normal persons.Conclusion The mutation locating in exon39-68 of USP24 gene seems not to play a principal role in pathogenesy of Parkinson disease in Chinese population of Hu＇nan region.