摘要
目的 研究中国人常染色体隐性遗传性 (autosomal recessive,AR)多巴反应性肌张力障碍(dopa- responsive dystonia,DRD)患者酪氨酸羟化酶 (tyrosine hydroxylase,TH)基因的突变特点。方法 应用聚合酶链反应 -单链构象多态性技术和 DNA序列分析方法对 5个 AR- DRD家系的先证者和两例散发DRD患者进行 TH基因突变分析。结果 TH基因第 1～ 2、5～ 11、13～ 14外显子的扩增产物未见异常电泳条带 ,DNA直接测序 TH基因的第 3、4、12外显子 ,结果未发现异常。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。
Objective To explore the mutation of tyrosine hydroxylase(TH) gene in Chinese patients with autosomal recessive(AR) dopa-responsive dystonia(DRD) and to lay a solid basis for gene diagnosis of AR-DRD in China. Methods Mutation analysis of TH gene was performed in 5 probands with AR-DRD and 2 sporadic patients with DRD by use of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combining DNA direct sequencing. Results The PCR-SSCP analysis and DNA direct sequencing following PCR revealed no mutation in all the 14 exons of TH gene. 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.
出处
《中华医学遗传学杂志》
CAS
CSCD
2004年第5期452-454,共3页
Chinese Journal of Medical Genetics
基金
国家 8 63计划项目 (2 0 0 1 AA2 2 70 1 1 )~~
关键词
中国人
常染色体隐性遗传性
多巴反应性肌张力障碍
TH基因突变
dopa-responsive dystonia
tyrosine hydroxylase gene mutation
polymerase chain reaction-single strand conformation polymorphism
