基于游离DNA单分子标签检测技术的眼皮肤白化病Ⅰ型的无创产前检测  

Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test

作　　者：王聪慧 陈晨[1] 王晓锋 赵学潮 赵干业 刘莉娜 孔祥东[1] Wang Conghui;Chen Chen;Wang Xiaofeng;Zhao Xuechao;Zhao Ganye;Liu Li’na;Kong Xiangdong(Center of Genetic and Prenatal Diagnosis,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450002,China;Genetalks Biotechnology(Changsha)Co.,Ltd.,Changsha,Hunan 410013,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,450002 [2]人和未来生物科技(长沙)有限公司,410013

出　　处：《中华医学遗传学杂志》2021年第4期317-320,共4页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2018YFC1002206-2)。

摘　　要：目的探讨基于游离DNA单分子标签检测技术(cfDNA barcode-enabled single-molecule test,cfBEST)的无创产前检测方法对于眼皮肤白化病Ⅰ型产前诊断的价值。方法采用cfBEST方法为1个眼皮肤白化病Ⅰ型家系提供无创产前检测,之后通过羊膜腔穿刺产前诊断进行验证,并随访妊娠的结局。结果cfBEST的无创产前检测结果显示,胎儿游离DNA浓度为6.6%,眼皮肤白化病Ⅰ型相关的TYR基因c.929_930insC(p.Arg311Lysfs*7)变异占比为45.7%,c.1037-7T>A变异占比为0%,且2个变异未检出的后验概率均为1,提示胎儿未携带这两个变异。经羊膜腔穿刺产前诊断验证,结果一致,随访提示胎儿正常。结论基于cfBEST技术的无创产前检测方法可用于检测血浆游离DNA中的母婴基因型组合,具有临床可行性。Objective To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test(cfBEST)for the prenatal diagnosis of oculocutaneous albinism type I in a family.Methods Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis.The outcome of the pregnancy was followed up.Results Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%,with the proportion of c.929_930insC(p.Arg311Lysfs*7)and c.1037-7T>A mutations being 45.7% and 0%,respectively.The posterior frequency of the negative results was 1,suggesting that the fetus carried neither of the two mutations.The result was consistent with that of invasive prenatal diagnosis,and the follow-up found that the fetus was normal.Conclusion Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA,which is clinically feasible.

关 键 词：眼皮肤白化病Ⅰ型 无创产前检测 游离DNA单分子标签检测技术 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]