Conclusion The mutation rate of TH gene in Chinese patients with AR-DRD is low, hence suggesting the genetic heterogeneity and a new locus for AR-DRD.

• 结论TH基因在中国人AR-DRD家系中突变率不高,提示我国AR-DRD患者具有遗传异质性,可能存在新的致病基因。