[1]何 敏,郭 华,张海祥,等.唐氏综合征高危孕妇血浆中游离胎儿DNA的Y染色体微缺失筛查[J].现代检验医学杂志,2016,31(02):39-41,45.[doi:10.3969/j.issn.1671-7414.2016.02.012]
　HE Min,GUO Hua,ZHANG Hai-xiang,et al.Screening the Y Chromosome Microdeletion of Free Fetal DNA in Plasma in Maternal with High-risk Down's Syndrome[J].Journal of Modern Laboratory Medicine,2016,31(02):39-41,45.[doi:10.3969/j.issn.1671-7414.2016.02.012]
点击复制

唐氏综合征高危孕妇血浆中游离胎儿DNA的Y染色体微缺失筛查()
分享到：

《现代检验医学杂志》[ISSN:/CN:]

卷:
第31卷
期数:
2016年02期
页码:
39-41,45
栏目:
论著
出版日期:
2016-06-01

文章信息/Info

Title:
Screening the Y Chromosome Microdeletion of Free Fetal DNA in Plasma in Maternal with High-risk Down's Syndrome
作者:
何 敏1; 郭 华2; 张海祥2; 王娅宁1; 赵院利2
1.延安大学西安创新学院,西安 710100; 2.陕西省人民医院,西安710068
Author(s):
HE Min1; GUO Hua2; ZHANG Hai-xiang2; WANG Ya-ning1; ZHAO Yuan-li2
1.Xi'an Greation College of Yan'an University,Xi'an 710100,China; 2.Shaanxi Provincial People's Hospital,Xi'an 710068,China
关键词:
唐氏综合征;  产前诊断;  游离胎儿DNA;  Y染色体微缺失;  无精子症因子
分类号:
R722.11; R394-33
DOI:
10.3969/j.issn.1671-7414.2016.02.012
文献标志码:
A
摘要:
目的 利用孕妇血浆中游离胎儿DNA在孕早期进行Y染色体微缺失筛查,诊断男性胎儿无精子症因子(AZF)缺失情况。方法 留取2013年6月～2014年8月参加产前检测的16～34孕周唐氏综合征筛查高危孕妇的外周血标本89例,提取出全血基因组DNA后利用Y染色体微缺失检测试剂盒检测AZF微缺失。结果 86例孕妇妊娠至胎儿出生,其中男胎孕妇45例,女胎孕妇41例。妊娠女性胎儿的孕妇血浆DNA仅扩增出ZFX/ZFY对照基因,而妊娠男性胎儿的孕妇血浆DNA同时扩增出SRY,ZFX/ZFY对照基因,且有3例样本检测出AZF基因微缺失。结论 通过提取孕妇血浆中游离胎儿DNA能够检测出胎儿是否伴有AZF基因微缺失,从而提前预测胎儿今后罹患生精障碍的风险。
Abstract:
Objective Using maternal free fetal DNA to screen Y chromosome microdeletion in early pregnancy and to diagnose the AZF deletions in male fetus.Methods 89 cases peripheral blood samples were collected from high-risk Down's syndrome pregnant women in 16th～34th week of gestation in June 2013 to August 2014,and the whole blood genomic DNA was extracted to detect the AZF gene by using Y chromosome microdeletions detection Kit.Results 45 cases male fetus and 41 cases female fetus were born in 86 cases pregnant women.There were only ZFX/ZFY control genes in female fetal DNA,while the SRY,ZFX/ZFY genes could be amplified from male fetal DNA,and AZF microdeletion were detected in three male fetal DNA.Conclusion Extracting the DNA in maternal plasma will be ableto detect free fetal DNA and then identify whether the fetus is AZF gene deletions,thus predicting the potential risk of azoospermia for fetus in the future.

参考文献/References:

[1] 姜 萍,张风琴,苍金荣.唐氏综合征和神经管畸形筛查实验的临床应用[J].现代检验医学杂志,2007,22(5):106-108. Jiang P,Zhang FQ,Cang JR.The clinical application of Down's syndrome and neural tube defects screening experiment[J].J Mod Lab Med,2007,22(5):106-108.
[2] 米 阳,李志斌,贺同强,等.孕妇外周血浆中小片段游离胎儿DNA在无创性唐氏综合征检测中的应用[J].中国妇幼保健,2014,29(30):4997-4998. Mi Y,Li ZB,He TQ,et al.Application of the small and medium-sized pieces of free fetal DNA in pregnant women peripheral blood plasma in the noninvasive down's syndrome detection[J].Maternal and Child Health Care of China,2014,29(30):4997-4998.
[3] 林秀玲.小片段游离胎儿DNA检测Y染色体性别决定区的临床意义[J].中外医疗,2009,28(34):39. Lin XL.The clinical significance about small fragments of free fetal DNA tests sex-determining region of Y-chromosome[J].China Foreign MedicalTreatment,2009,28(34):39.
[4] 朱金玲,张玉萍,张淑红,等.利用孕妇血浆中游离胎儿DNA进行胎儿性别诊断[J].中国优生与遗传杂志,2006,14(11):23,35. Zhu JL,Zhang YP,Zhang SH,et al.Use of pregnant women free fetalDNA in plasma for the diagnosis of fetal sex[J].Chinese Journal of Birth Health & Heredity,2006,14(11):23,35.
[5] Simoni M, Bakker E, Krausz C.EAA/EMQN best practice guidelines for molecular diagnosis of Y chromosomal microdeletions.State of the art 2004[J].Int J Androl,2004,27(4):240-249.
[6] Stahl PJ,Masson P,Mielnik A,et al.A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia[J].Fertil Steril,2010,94(5):1753-1756.
[7] Clement P, Lohmann L, Minz M.Screening for Y chromosome microdeletionsin assisted reproductive techniques[J].Gynecol Obstet Ferti,2008,36(3):318-324.
[8] 熊 进,邓 锴,张昌军,等.性别相关的母血中游离胎儿DNA的Y染色体微缺失筛查的探索研究[J].中国性科学,2014,23(11):93-95. Xiong J,Deng K,Zhang CJ,et al.Screening the sex-related Y chromosome microdeletion of free fetal DNA in maternal blood[J].Chinese Journal of Human Sexuality,2014,23(11):93-95.
[9] 宋春生,赵家有.《EAU男性不育症指南(2012年版)》解读[J].中国性科学,2012,21(10):13-16,23. Song CS,Zhao JY.Introduction to EAU male infertility Guidelines(2012)[J].Chinese Journal of Human Sexuality,2012,21(10):13-16,23.
[10] Vogt PH,Bender U.Human Y chromosome micro-deletion analysis by PCR multiplex protocols identifying only clinically relevant AZF microdeletions[J].Methods Mol Biol,2013(927):187-204.
[11] Pandey LK,Pandey S,Gupta J,et al.Loss of the AZFc region due to a human Y-chromosome micordeletion in infertile male patients[J].Genet Mol Res,2010,92(6):1924-1933.
[12] Ravel C,Chantot-Bastatard S,El Houate B,et al.Y-chromosome AZFc structural architecture and relationship to male fertility[J].Fertil Steril,2009,92(6):1924-1933.
[13] 朱 燕,徐克前,王晓春.孕妇血浆中游离胎儿DNA 在产前诊断中的初步应用[J].检验医学,2012,27(3):159-162. Zhu Y,Xu KQ,Wang XC.Primary application of free fetal DNA from maternalplasma in prenatal diagnosis[J].Laboratory Medicine,2012,27(3):159-162.
[14] 孙宏跃,袁 路,徐广立.孕妇中期唐氏筛查联合外周血游离胎儿DNA检测的临床意义[J].中外医学研究,2014,12(12):57-58. Sun HY,Yuan L,Xu GL.Clinical significance of combined detection of Down's Screening and free fetal DNA investigation[J].Chinese and Foreign MedicalResearch,2014,12(12):57-58.
[15] 王 靖,陈汉平.唐氏综合征高危孕妇血浆游离胎儿DNA的检测[J].中国优生与遗传杂志,2011,19(7):33-34,83. Wang J,Chen HP.Detection of cell-free fetal DNA in maternal plasma of the women with pregnancy,who have high-risk of carrying a Down's fetus in Down's syndrome screening[J].Chinese Journal of Birth Health & Heredity,2011,19(7):33-34,83.

相似文献/References:

[1]何海洪,陈艳清,许 瑶,等.东莞东南区域不同人群的G6PD筛查结果分析[J].现代检验医学杂志,2015,30(03):117.[doi:10.3969/j.issn.1671-7414.2015.03.035]
　HE Hai-hong,CHEN Yan-qing,XU Yao,et al.Analysis of G6PD Screening Results in Different Group of the Southeast Dongguan[J].Journal of Modern Laboratory Medicine,2015,30(02):117.[doi:10.3969/j.issn.1671-7414.2015.03.035]
[2]李闪闪,张艳芳,谢丰华,等.CMA和核型分析在胎儿染色体异常诊断中的临床价值[J].现代检验医学杂志,2018,33(03):126.[doi:10.3969/j.issn.1671-7414.2018.03.032]
　LI Shan-shan,ZHANG Yan-fang,XIE Feng-hua,et al.Clinical Value of CMA and Karyotype Analysis in Diagnosis of Fetal Chromosomal Abnormalities[J].Journal of Modern Laboratory Medicine,2018,33(02):126.[doi:10.3969/j.issn.1671-7414.2018.03.032]
[3]罗小芳,黄柳萍,吴海燕,等.广东省顺德地区6 503例孕中期羊水染色体核型结果分析[J].现代检验医学杂志,2019,34(02):44.[doi:10.3969/j.issn.1671-7414.2019.02.012]
　LUO Xiao-fang,HUANG Liu-ping,WU Hai-yan,et al.Analysis of Chromosome Karyotype Results of 6 503 Cases ofAmniotic Fluid in Shunde Area of Guangdong Province[J].Journal of Modern Laboratory Medicine,2019,34(02):44.[doi:10.3969/j.issn.1671-7414.2019.02.012]

备注/Memo

备注/Memo:
基金项目:陕西省科技攻关项目(2014K11-03-09-05),陕西省科技攻关项目(2014K12-04)。 作者简介:何 敏(1984-),女,硕士,讲师,主要研究方向:公共卫生,Tel:18709247752。郭 华(1977-),女,大学本科,主管检验师,主要从事分子生物检测工作,同为第一作者。 通讯作者:张海洋,男,高级工程师,E-mail:dream1121@sohu.com。
更新日期/Last Update: 2016-02-20