论文部分内容阅读
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 investigate the mutation of tyrosine hydroxylase (TH) gene in Chinese patients with autosomal recessive (AR) dopa-responsive dystonia (DRD). Methods The mutation of TH gene in five AR-DRD pedigrees and two DRD-infected patients were analyzed by polymerase chain reaction-single strand conformation polymorphism and DNA sequence analysis. Results There was no abnormal electrophoretic bands in the amplification products of exons 1 ~ 2, 5 ~ 11 and 13 ~ 14 of TH gene. DNA exon 3, 4, and 12 of TH gene were sequenced directly, and no abnormality was found. Conclusions The mutation rate of TH gene in Chinese AR-DRD pedigrees is not high, suggesting that there is genetic heterogeneity in AR-DRD patients in our country. There may be new pathogenic genes.