中国临床康复2004，Vol.8Issue(19)：3896-3897,2.
汉族多巴敏感性肌张力障碍三个家系的分子遗传学研究
Molecular genetic study of Han nationality dopa-responsive dystonia in three Chinese families
张社卿 1郑惠民 1谢惠君 1任大明 2林大宇2
作者信息
- 1. 解放军第二军医大学长海医院神经内科,上海市,200433
- 2. 复旦大学遗传所,上海市,200433
- 折叠
摘要
Abstract
BACKGROUND: The basic cause of Dopa-responsive dystonia(DRD) is the genetic defect. Since 1990, the clinical reports about this disease in China have already been more than 40, however, research about the molecular genetics of this disease is rarely.OBJECTIVE: To analyze the relationship between Chinese DRD onset and gene mutation of guanosine triphosphate cyclohydrolase 1 (GCH-1 ).DESIGN: Typical investigation,SETTING and PARTICIPANTS: Five patients with DRD, 2000 - 10/2001 -07 in Changhai Hospital of the Second Military Hospital of Chinese PLA, and their families, totally 12 members from 3 families, were involved in this research.METHODS: Venous blood(2 mL) was drawn and genomic DNA was extracted by standard technique. GCH-1 genes were amplified by PCR, and reaction products were directly sequenced by DNA sequencer.MAIN OUTCOME MEASURES: Whether there were genetic mutation in these three families.RESULTS: In family A, the mother was normal, with no GCH-1 gene mutation, but in the three patients, a G to A transition at the 142 base of exon 1was found, which resulted in a substitution of cysteine to tyrosine. In family B, the proband was found a transition of T to C at the 71 base of exon 2,which resulted in a substitution of leucine by praline, but her parents and brother were normal. There was no GCH-1 gene mutation in family C.CONCLUSION: GCH-1 gene mutation is only one of reasons to the DRD patients onset.关键词
肌张力障碍/遗传学/多巴/GTP环化水解酶/遗传学,生物化学/突变分类
医药卫生引用本文复制引用
张社卿,郑惠民,谢惠君,任大明,林大宇..汉族多巴敏感性肌张力障碍三个家系的分子遗传学研究[J].中国临床康复,2004,8(19):3896-3897,2.
