完全型X连锁先天性静止性夜盲临床和基因研究  

Clinical and genetic research on a Chinese family with X-linked complete congenital stationary night blindness

作　　者：睢瑞芳[1] 李凤荣[1] 赵家良[1] 姜茹欣[1] 沈岩[2] 

机构地区：[1]中国医学科学院,中国协和医科大学,北京协和医院眼科,100730 [2]中国医学科学院基础研究所

出　　处：《中华眼底病杂志》2007年第3期184-188,共5页Chinese Journal of Ocular Fundus Diseases

基　　金：国家高技术研究发展计划（863计划）（2002BA711A08）;北京市科技计划项目（H020220020510）;北京协和医院留学回国启动基金资助项目

摘　　要：目的明确一国人家族遗传性完全型X连锁先天性静止性夜盲（CSNB）的诊断，并检定致病基因突变。方法对-CSNB家系进行临床研究和系谱分析。采集家族中5位患者和16位正常人的静脉血并提取基因组DNA。通过连锁分析确定该病致病基因的染色体位点后，应用聚合酶链反应（PCR）扩增候选基因外显子及其侧翼，直接测序确定致病的基因突变。采用PCR直接测序法进行群体分析。对照组包括正常人群对照和家族内正常对照，按照一定标准入选。结果该CSNB家系家族中所有患者NYX基因外显子2发生了错义突变，核苷酸772位的腺嘌呤被胞嘧啶取代（A772C）；对应的苏氨酸改变为脯氨酸（T258P），女性携带者均为杂合。家族中正常人及110名正常人群对照均未发现该突变。结论NYX新突变A772C（T258P）和该家系X连锁CSNB相关。Objective To make the diagnosis of a pedigree of X-linked congenital stational night blindness （CSNB） and to identify the disease-causing gene. Methods Clinical examination and family analysis were made. Venous blood was drawn from 5 affected and 16 unaffected individuals from the family. Genomic DNA was extracted. The locus of the candidate gene was mapped by linkage study. Mutation was screened by polymerase chain reaction （PCR） of the candidate gene exons and flanked introns. The PCR products are directly sequenced. The healthy people in and out of the family who were selected according to certain standards were as the control. Results A Chinese family with X-linked complete congenital stationary night blindness （CSNB1） was diagnosed. A missense mutation A772C （T258P） in exon 2 of NYX gene was identified in all affected patients and all female carriers were heterozygous. This mutation was neither found in normal family members nor among 110 unrelated normal controls. Conclusion A novel mutation of NYX gene with threonine to proline change is responsible for this Chinese CSNB1 family.

关 键 词：夜盲 先天性 基因 X连锁 基因 隐性 突变 

分 类 号：R686[医药卫生—骨科学]