摘要目的 对1个早发性帕金森病家系的PARK7基因进行变异分析,探讨其遗传学病因.方法 利用纯合子定位结合cDNA测序对1个近亲结婚的早发性帕金森病家系进行遗传学分析.结果 纯合子定位发现先证者基因组纯合区间有1个早发性帕金森病的候选致病基因(PARK7),PARK7的扩增测序结果显示存在c.56C＞G (p.Thr19Arg)纯合错义变异,经检索HGMD数据库为未报道过的新变异,生物信息学分析提示该错义变异具有致病性.结论 PARK7基因c.56C＞G (p.Thr19Arg)纯合错义变异是该家系患者的致病变异,新变异的检出扩展了PARK7基因的变异谱.

abstractsObjective To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.Methods Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.Results A homozygous missense variation (c.56C＞G,p.Thr19Arg) in the PARK7 gene was identified in the patient.In silico analysis suggested the c.56C＞G variation to be pathogenic.Conclusion Homozygous c.56C＞ G variation of the PARK7 gene was the disease-causing variation in this family.