1例成骨不全患者致病基因鉴定  

Identification of pathogenic gene in a patient with osteogenesis imperfecta

作　　者：赵强 黄泳华[1] 冯穗华[1] 冼诗瑶 潘焯仪 吴欣新 张妙莲 吴海涛[1] ZHAO Qiang;HUANG Yong-hua;FENG Sui-hua;XIAN Shi-yao;PAN Zhuo-yi;WU Xin-xin;ZHANG Miaolian;WU Hai-tao(Jiangmen Central Hospital,Jiangmen 529000,China)

机构地区：[1]广东省江门市中心医院,广东江门529000

出　　处：《广东医科大学学报》2021年第1期35-39,共5页Journal of Guangdong Medical University

基　　金：广东省自然科学基金资助项目(No.2018A030310050);江门市科技计划项目(No.2018020100680004241)。

摘　　要：目的鉴定1例成骨不全患者致病基因。方法提取1例成骨不全患者及父母外周血DNA,先用成骨不全相关基因芯片进行捕获测序,再用Sanger测序验证。结果患者鉴定出P3H1基因复合杂合突变c.2164C>T(p.Q722*)和c.466-7T>G,分别来源于父母;c.2164C>T(p.Q722*)为已报道致病性突变,而c.466-7T>G位为新突变。结论该例成骨不全患者的致病基因为P3H1基因复合杂合突变。Objective To identify the pathogenic gene in a patient with osteogenesis imperfecta(OI).Methods Peripheral blood DNA was extracted from an OI patient and her parents and underwent target exome capture using OI-associated gene chip.The candidate pathogenic mutations were validated using Sanger sequencing.Results The compound heterozygous mutations of P3H1 gene including c.2164C>T(p.Q722*)and c.466-7T>G were identified and inherited from her father and mother,respectively.The c.2164C>T(p.Q722*)was a reported pathogenic mutation,while c.466-7T>G was a novel mutation.Conclusion The compound heterozygous mutations ofP3H1 gene are the pathogenic mutation in the present case of OI.

关 键 词：成骨不全 P3H1基因 杂合突变 

分 类 号：Q344[生物学—遗传学]