21-羟化酶缺乏症家系中17-OHP浓度值与基因分析  

17-OHP concentration and gene analysis in peripheral blood of the family with 21-hydroxylase deficiency

作　　者：黄丽华[1] 杨金玲[1] 代元平 谢莉[1] 严提珍[1] 黄钧 陈大宇[1] Huang Lihua;Yang Jinling;Dai Yuanping;Xie Li;Yan Tizhen;Huang Jun;Chen Dayu(Liuzhou Maternity and Child Healthcare Hospital,Liuzhou Institute of Reproduction and Genetics,Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology,Liuzhou,Guangxi 545001,China)

机构地区：[1]柳州市妇幼保健院<柳州市生殖与遗传研究所,广西科技大学附属妇产医院、儿童医院>,广西柳州545001

出　　处：《医药前沿》2020年第26期23-25,共3页Journal of Frontiers of Medicine

基　　金：柳州市科技重大专项项目(2018AF10501);广西壮族自治区卫计委项目(Z20170525).

摘　　要：目的:针对3例在体检时发现身高低于正常年龄组3个标准差的21-羟化酶缺乏症患儿和父母的外周血17-OHP浓度及基因进行分析并对下一胎进行产前诊断。方法:先收集3例柳州市妇幼保健院就诊时发现身高低于正常年龄组3个标准差的21-羟化酶缺乏症患儿和父母的外周血及下一胎儿脐带血。运用时间分辨荧光免疫分析仪(AutoTRFlA-4)联合基因测序,对这3例21-羟化酶缺乏症患儿和其父母的外周血进行17-OHP浓度及基因分析,并通过检测患儿及父母基因型,为下一胎产前诊断提供有效的依据。结果:基因类型:第一家患儿为c.293-13C﹥G纯合突变、第二家患儿为c.518C﹥G复合c.737delA突变、第三家患儿为c.293-13A>G纯合突变;第一家和第二家2例胎儿为CYP21A2基因携带者,第三家1例胎儿为c.293-13A>G纯合子突变;父母基因类型均为携带;3个家系中检出17-OHP浓度:3例患儿分别为50.2nmol/L、78.5nmol/L、90.1nmol/L均高于正常参考值;父母17-OHP浓度均在正常范围内;胎儿17-OHP浓度分别为15.7nmol/L、11.2nmol/L、67.1nmol/L,其中第三家系胎儿17-OHP浓度高于正常参考值。结论:采用时间分辨荧光免疫分析方法(AutoTRFlA-4)检测17-OHp浓度并联合基因测序是21-羟化酶缺陷产前诊断的可靠方法。Objective To analyze the peripheral blood 17-OHP concentration and genes of 3 children with 21-hydroxylase deficiency whose height was below 3 standard deviations in normal age group during physical examination and their parents to deliver the next child prenatal diagnosis.Methods Three cases of 21-hydroxylase deficiency whose height was lower 3 standard deviations than the normal age group,when they came to Liuzhou Maternal and Child Health Care Hospital,the peripheral blood of the three children and their parents were collected.Using the time-resolved fluorescence immunoassay analyzer(AutoTRFlA-4)company and gene sequencing,17-OHP concentration and gene analysis were performed on the peripheral blood of these 3 children with 21-hydroxylase deficiency and their parents.Then the detection of genotypes of the children and their parents provided an effective basis for prenatal diagnosis about the next child.Results Gene type:the first proband is c.293-13C>G homozygous mutation,the second case is c.518C>G compound c.737delA mutation,and the third one is c.293-13A>G homozygous mutation.2 fetuses of the first and second family are carriers of the CYP21A2 gene,and 1 fetus of the third family is c.293-13A>G homozygous mutations.All of their parents are carriers.17-OHP concentrations were detected in the three families,and 3 probands were 50.2nmol/l,78.5nmol/l,and 90.1nmol/l,respectively,which were higher than the normal reference value.17-OHP concentrations of their parents were within the normal range,whose fetuses were 15.7nmol/l,11.2nmol/l,and 67.1nmol/l.Obviously,the concentration of 17-OHP in the third family was higher than the normal reference value.Conclusion Combined use of time-resolved fluorescence immunoassay(AutoTRFlA-4)to detect 17-OHP concentration and gene sequencing is a reliable method for prenatal diagnosis of 21-hydroxylase deficiency.

关 键 词：产前诊断 先天性 肾上腺增生 CYP21A2基因 脐带血 17-OHP浓度 

分 类 号：R586[医药卫生—内分泌]