22例中国Coats病患儿NDP基因检测分析  

Detection and analysis of NDP gene mutations in 22 Chinese children with Coats' disease

作　　者：杨琼[1] 魏文斌[1] 卢海[1] 李松峰[1] 

机构地区：[1]首都医科大学附属北京同仁医院,北京同仁眼科中心,眼科学与视觉科学北京市重点实验室,100730

出　　处：《眼科》2016年第2期127-129,共3页Ophthalmology in China

基　　金：北京市医院管理局临床医学发展专项(ZY201307)

摘　　要：目的针对国外有报道认为NDP基因SNP与Coats病发病可能相关,观察22例中国Coats病患儿NDP基因外显子突变情况,探讨其在Coats病发病机制中的作用。设计基因研究。研究对象22例Coats病患儿及6例正常对照。方法将全部22例患儿和6例正常对照样品的基因组DNA经聚合酶链反应扩增的产物进行测序,分析检测NDP基因全外显子突变情况。主要指标基因序列。结果在NDP基因的3个外显子中,未发现有意义的SNP位点,仅发现c.943T>C(9号、18号)及c.943T>Y(27号、28号,Y代表C/T杂合子),但上述突变均位于蛋白质编码区外。结论 22例患儿均未发现有意义的NDP基因SNP,中国Coats病患儿的发病可能与NDP基因突变无关。Objective Previous literature reports that the NDP gene SNP may be associated with Coats disease. To investigate the NDP gene exon mutation in 22 Chinese children with Coats’ disease and explore its role in the pathogenesis of Coats. Design Gene study. Participants 22 cases of Coats disease and 6 cases of normal person. Methods Polymerase chain reation（PCR） amplification of exon sequencing was performed to detect the whole exon of NDP gene. Main Outcome Measures Gene sequences. Results No significant SNP in the three exons of NDP genes, only c.943T〉C（no 9,18）and c.943T〉Y（no 27, 28; Y on behalf of C/T heterozygotes） were found, but these mutations are located outside the protein coding region. Conclusion None meaningful SNP in NDP gene were found in22 Coats’ disease cases. The pathogenesis of Coats’ disease in Chinese childhood may has no relation with NDP gene mutations.

关 键 词：COATS病 NDP基因 聚合酶链式反应 单核苷酸多态性 

分 类 号：R774.1[医药卫生—眼科]