遗传性对称性色素异常症一家系ADAR1基因新突变研究

发布时间：2018-03-11 15:03

本文选题：遗传性对称性色素异常症　切入点：ADAR1　出处：《福建医科大学》2011年硕士论文　论文类型：学位论文

【摘要】：目的:(1)报道一个中国遗传性对称性色素异常症(DSH)家系,研究该家系ADAR1基因突变情况;(2)回顾自2003年国内报道的突变病例来阐述DSH临床及遗传特征。方法:(1)应用PCR-DNA直接测序技术对一个DSH四代家系进行ADAR1基因突变检测(2)检索2003年以来在CNKI和PubMed上报道的国内所有DSH突变的文献,对其临床及遗传特点进行分析总结。结果:(1)该家系四代受累,共有患者14人;(2)发现该家系c.2857AT(P.K953X)无义突变,家系中健康对照及无亲缘关系的正常人未发现序列突变;(2)我们一共检索到40个ADAR1基因突变DSH家系。结论:(1)上述的ADAR1基因突变为新的无义突变; (2)在我国报道的DSH突变病例中,未发现基因型与表型之间的相关性。
[Abstract]:Objective to study the mutation of ADAR1 gene in a Chinese family with dystrophy of hereditary symmetry dystrophy (DDS). To review the clinical and genetic characteristics of DSH reported in China since 2003. Methods PCR-DNA direct sequencing technique was used to detect ADAR1 gene mutation in a family of four generations of DSH. All the literatures on DSH mutation reported on CNKI and PubMed since 2003 were searched, and their clinical and genetic characteristics were analyzed and summarized. Results (1) in this family, 14 patients were involved and 14 patients were involved. The sense mutation was found in this family c. 2857 ATP P.K953X), and no sequence mutation was found in healthy controls and unrelated normal persons. A total of 40 DSH families with ADAR1 gene mutation were found. Conclusion (1) the ADAR1 gene mutation is a new nonsense mutation. There was no correlation between genotype and phenotype in DSH mutation cases reported in China.
【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.5

【参考文献】