22例中国Coats病患儿NDP基因检测分析

doi:10.13281/j.cnki.issn.1004-4469.2016.02.014

眼科

22例中国Coats病患儿NDP基因检测分析

杨琼魏文斌卢海李松峰

100730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

收稿日期:2015-01-23 出版日期:2016-03-25 发布日期:2016-03-24
通讯作者: 魏文斌，Email：tr-weiwenbin@163.com
基金资助:
北京市医院管理局临床医学发展专项（ZY201307）

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

YANG Qiong, WEI Wen-bin, LU Hai, LI Song-feng

Beijing Tongren Eye Center, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China

Received:2015-01-23 Online:2016-03-25 Published:2016-03-24
Contact: WEI Wen-bin, Email：tr-weiwenbin@163.com

摘要/Abstract

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。（眼科， 2016, 25： 127-129）

关键词: , Coats病, NDP基因, 聚合酶链式反应, 单核苷酸多态性

Abstract:

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 in 22 Coats’disease cases. The pathogenesis of Coats’ disease in Chinese childhood may has no relation with NDP gene mutations. (Ophthalmol CHN, 2015, 24: 127-129)

Key words: Coats disease, NDP gene, polymerase chain reaction, single nucleotide polymorphism

杨琼魏文斌卢海李松峰. 22例中国Coats病患儿NDP基因检测分析[J]. 眼科, doi: 10.13281/j.cnki.issn.1004-4469.2016.02.014.

YANG Qiong, WEI Wen-bin, LU Hai, LI Song-feng. Detection and analysis of NDP gene mutations in 22 Chinese children with Coats’ disease[J]. Ophthalmology in China, doi: 10.13281/j.cnki.issn.1004-4469.2016.02.014.

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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

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