一个X-连锁Norrie病家系的基因分析和产前诊断  

Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease

作　　者：阳鑫妙 李雯雯 沈学萍 邵惠芬 沈国松 Yang Xinmiao;Li Wenwen;Shen Xueping;Shao Huifen(Huzhou Maternity and Child Health Care Hospital,Zhejiang 3l3000,China)

机构地区：[1]湖州市妇幼保健院,浙江313000 [2]不详

出　　处：《中华医学遗传学杂志》2019年第5期462-464,共3页Chinese Journal of Medical Genetics

摘　　要：目的 对1个Norrie病家系先证者的NDP基因进行变异分析,为该家系的遗传咨询和产前诊断提供依据.方法 应用Sanger测序技术进行NDP基因检测,在检测到致病基因后抽取羊水细胞进行产前诊断.结果 Sanger检测结果显示先证者位于染色体Xp11.3的NDP基因发生了c.2T>C(p.M1T)错义变异,而羊水细胞也检测到NDP基因c.2T>C杂合变异.该变异在ClinVar和HGMD数据库中均未见报道.结论 NDP基因c.2T>C变异为该家系的致病原因,基因检测结果为家系的遗传咨询和产前诊断提供了依据.Objective To detect mutation of NDP gene in a pedigree affected with Norrie disease.Methods Sanger sequencing was used to analyze the NDP gene at Xp11.3.Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.Results Sanger sequencing has revealed a c.2T>C(p.M1T)missense mutation of the NDP gene in the proband and the fetus.The same variation was not found in ClinVar and HGMD database.Conclusion The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.

关 键 词：X-连锁隐性遗传 Norrie病 NDP基因 错义变异 

分 类 号：R5[医药卫生—内科学]