x连锁隐性遗传诺里病家系的NDP基因突变检测  

Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease

作　　者：梅利斌[1] 黄燕茹[1] 潘乾[1] 梁德生[1] 邬玲仟[1] 

机构地区：[1]中南大学医学遗传学国家重点实验室湖南家辉遗传专科医院,长沙410078

出　　处：《中华眼科杂志》2015年第5期360-363,共4页Chinese Journal of Ophthalmology

基　　金：公益性行业科研专项基金（201302001）;国家科技基础性工作专项基金（2014FY110700）

摘　　要：目的研究一个X连锁隐性遗传诺里病家系NDP基因突变情况。方法收集诺里病先证者及其家系成员临床资料，完善眼科检查，对家系共35名成员的外周血抽提基因组DNA，PCR扩增NDP基因外显子及其侧翼序列，产物纯化后直接进行DNA测序。结果家系中患者NDP基因第3号外显子存在c．362G〉A错义突变（p．R121Q）。结论NDP基因c．362G〉A错义突变是导致该家系出现诺里病的原因。基因突变检测可以为家系成员提供准确的遗传咨询及产前诊断。Objective The purpose of the current research was to investigate the NDP （Norrie disease protein） gene in one Chinese family with Norrie disease （ND） and to characterize the related clinical features. Methods Clinical data of the proband and his family members were collected. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions. Results A hemizygous NDP missense mutation c.362G〉A （p.Argl21Gln） in exon 3 was identified in the affected members, but not in any of the unaffected family individuals. Conclusions The missense mutation c.362G〉A in NDP is responsible for the Norrie disease in this family. This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.

关 键 词：盲 神经系统疾病 痉挛 婴儿 眼蛋白质类 神经组织蛋白质类 外显子 突变 误义 

分 类 号：R596[医药卫生—内科学]