|本期目录/Table of Contents|

[1]严爱贞,郑德柱,曾 健,等.21羟化酶缺乏症高风险胎儿的产前诊断分析[J].医学研究与战创伤救治(原医学研究生学报),2013,15(06):573-576.[doi:10.3969/j.issn.1672-271X.2013.06.007]
　YAN Ai-zhen,ZHENG De-zhu,ZENG Jian,et al.Prenatal molecular diagnosis of a fetus at high risk for 21-hydroxylyase deficiency[J].JOURNAL OF MEDICALRESEARCH —COMBAT TRAUMA CARE,2013,15(06):573-576.[doi:10.3969/j.issn.1672-271X.2013.06.007]
点击复制

21羟化酶缺乏症高风险胎儿的产前诊断分析()
分享到62.8K

《医学研究与战创伤救治》（原医学研究生学报）[ISSN:1672-271X/CN:32-1713/R]

卷:
第15卷
期数:
2013年06期
页码:
573-576
栏目:
出版日期:
2013-11-20

文章信息/Info

Title:
Prenatal molecular diagnosis of a fetus at high risk for 21-hydroxylyase deficiency
作者:
严爱贞; 郑德柱; 曾 健; 王志红; 兰风华
350025 福建福州，南京军区福州总医院遗传病分子诊断中心
Author(s):
YAN Ai-zhen; ZHENG De-zhu; ZENG Jian; WANG Zhi-hong; LAN Feng-hua.
Center for Molecular Diagnosis of Genetic Diseases，Fuzhou General Hospital of Nanjing Military Command，Fuzhou，Fujian 350025，China
关键词:
21羟化酶缺乏症; CYP21A2基因; 产前诊断; 短串联重复序列位点
Keywords:
21-hydroxylyase deficiency;  CYP21A2 gene;  prenatal diagnosis;  STR sites
分类号:
R714.5
DOI:
10.3969/j.issn.1672-271X.2013.06.007
文献标志码:
A
摘要:
目的 对1例21羟化酶缺乏症(21OHD)先证者家系CYP21A2基因缺陷高风险胎儿进行产前分子诊断。方法 提取先证者及其父母的外周血DNA，分段扩增CYP21A2基因全长并测序，确定先证者及父母基因型。采用亲子鉴定试验排除母体DNA污染。针对先证者突变位点，扩增羊水DNA并测序。结果 测序结果显示先证者存在IVS2-13A>G纯合突变，父母均为携带者。比较STR位点未见羊水DNA受母体DNA污染迹象。胎儿为该突变杂合子,判断胎儿为携带者。培养后羊水检测结果与培养前一致。胎儿娩出后发育良好,证实了产前诊断结果。结论 建立了21OHD产前分子诊断方法，并成功应用于1例21OHD高风险胎儿的产前诊断分析。
Abstract:
Objective To perform prenatal molecular diagnosis on a fetus at high risk for 21-hydroxylyase deficiency.Methods Genomic DNA was extracted from peripheral blood of proband and the parents.The coding region of CYP21A2 gene was amplified in segments by polymerase chain reaction(PCR)to confirm the genotype of proband and the parents.Paternity test was applied to exclude the possibility of maternal genomic DNA contamination.After confirming the mutation of the proband,PCR amplification of CYP21A2 gene was carried out by using fetal DNA and the PCR products were sequenced directly.Results The sequencing results showed that a homozygous mutation of IVS2-13A>G was detected in the CYP21A2 gene of the proband and the parents were the 21OHD carriers.By comparing short tandem repeat(STR) sites,contamination of maternal genomic DNA was not found in fetal DNA.IVS2-13A>G mutation was found in one allele of the fetus by direct sequencing and he was judged as a 21OHD carrier.The detection results of amniotic fluid cell(AFC)before and after culture were identical.The fetus was healthy after birth,consistent with the result of the prenatal molecular diagnosis.Conclusion A method for molecular prenatal diagnosis of 21OHD was established and successfully applied to the prenatal diagnosis of a fetus at high risk for 21-hydroxylyase deficiency.

参考文献/References:

[1]Yu Y，Wang J，Huang X，et al.Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency[J].Genet Test Mol Biomarkers，2011，15(3):137-142.
[2]Forest MG.Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21 hydroxylase deficiency[J].Hum Reprod Update，2004，10(6):469-485.
[3]Ghizzoni L，Cesari S，Cremonini G，et al.Prenata1 and early postnatal treatment of congenital adrenal hyperplasia[J].Endocr Dev，2007，11:58-69.
[4]Hindmarsh PC.Management of the child with congenital adrenal hyperplasia[J].Best Pract Res Clin Endoerinol Metab，2009，23:193-208.
[5]黄梁浒，黄惠娟，杨渤生，等．肾上腺脑白质营养不良的产前分子诊断[J]．中华医学遗传学杂志，2005，22(6):612-615.
[6]Yokoyama Y，Teraoka M，Tsuji K，et al.Rapid screening method to detect mutations in CYP21，the gene for 21-hydroxylase[J].Am J Med Genet，2000，94(1):28-31.
[7]柯龙凤，王志红，黄惠娟，等.X-连锁肾上腺脑白质营养不良高风险胎儿的产前分子诊断[J].中华妇产科杂志，2008，43(1):25-28.
[8]兰风华，黄梁浒，杨渤生.肾上腺脑白质营养不良的分子诊断与分子机制[J].东南国防医药，2005，7(5):321-323.
[9]Wedell A.Congenital adrenal hyperplasia[J].Clin Biochem，2011，44(7):505-506.
[10]Wedell A,Thilén A,Ritzén EM，et al .Mutational spectrum of the steroid 21-hydroxylase gene in Sweden:implications for genetic diagnosis and association with disease manifestation[J].J Clin Endocrinol Metab，1994，78(5):1145-52.
[11]Lee HH，Kuo JM，Chao HT，et al.Carrier analysis and prenatal diagnosis of congenital adrenalhyperplasia caused by 21-hydroxylase deficiency in chinese[J].J Clin Endocrinol Metab，2000，85:597-600.
[12]崔英霞，夏欣一，史轶超.先天性肾上腺皮质增生风险胎儿的CYP21基因分子产前诊断[J].现代检验医学杂志，2009，24(5):15-18.
[13]Ying XC，Xin YX，Ying B,et al.Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay[J].Genet Test，2008，12(4):533-536.
[14]Winsor EJ，Akoury H，Chitayat D，et al.The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis[J].Prenat Diagn，2010，30(8):746-752.
[15]Schrijver I，Cherny SC，Zehnder JL .Testing for maternal cell contamination in prenatal samples:a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories[J].J Mol Diagn，2007，9(3):394-400.

相似文献/References:

备注/Memo

备注/Memo:
-
更新日期/Last Update: 2013-11-20