[1]王莉娜)△,周世媛),张华),等.MLPA技术在22q11.2微缺失综合征产前诊断中的应用[J].郑州大学学报(医学版),2015,(01):52.
 WANG Lina,ZHOU Shiyuan,ZHANG Hua,et al.Application of MLPA in prenatal diagnosis of 22q11.2 microdeletion syndrome[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2015,(01):52.
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MLPA技术在22q11.2微缺失综合征产前诊断中的应用
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2015年01期
页码:
52
栏目:
论著
出版日期:
2015-01-20

文章信息/Info

Title:
Application of MLPA in prenatal diagnosis of 22q11.2 microdeletion syndrome
作者:
王莉娜1)△周世媛1)张华1)王凤羽1)谢建生2)杨博3)周继苹1)
1)河南省人口和计划生育科学技术研究院优生遗传室 郑州 450002 2)深圳市妇幼保健院产前诊断中心 深圳 5180003)郑州大学第三附属医院检验科 郑州 450052
Author(s):
WANG Lina1) ZHOU Shiyuan1) ZHANG Hua1) WANG Fengyu1) XIE Jiansheng2) YANG Bo3) ZHOU Jiping1)
1)Aristogenesis and Genetics Research, Population and Family Planning Research Institute of Henan,Zhengzhou 450002 2)Prenatal Diagnosis Center, Shenzhen Maternity and Child Health Care Hospital, Shenzhen 518000 3)Clinical Laboratory, the Third Affiliated Hospital, Zhengzhou University, Zhengzhou 450052
关键词:
MLPA22q11.2微缺失综合征产前诊断
Keywords:
MLPA22q11.2 microdeletion syndromeprenatal diagnosis
分类号:
R394.3
摘要:
摘要目的:采用多重连接探针扩增技术(MLPA)与荧光原位杂交技术(FISH)对22q11.2微缺失综合征(22q11.2DS)胎儿进行检测。方法:采集22q11.2DS胎儿羊水及其父母外周血,提取DNA后采用MLPA进行检测;同时取胎儿羊水、父母外周血进行常规染色体核型分析;使用FISH探针(TUPLE1/ARSA)对羊水细胞进行杂交检测。结果:MLPA检测结果显示22q11.2DS胎儿22q11.21区域196、208、371信号均降低,胎儿父母检测均为正常;常规染色体核型分析均未见异常;应用FISH技术可检测到胎儿TUPLE1基因缺失。结论:MLPA技术在诊断22q11.2DS中较FISH技术可提供更多的信息。
Abstract:
AbstractAim: To detect the genetic deletion/duplication with 22q11.2 from amniotic fluid in the fetus with 22q11.2 microdeletion syndrome by MLPA and FISH.Methods: The amniotic fluid and peripheral blood from the parents were prepared for MLPA and chromosome karyotype analysis; FISH probe(TUPLE1/ARSA) was used to detect the microdeletion at 22q11.2. Results: The results of MLPA showed that the fluorescence peak of those 3 probes(196, 208, 371) associated with 22q11.2 microdeletion syndrome of the patient were lower. The results of FISH showed that the TUPLE1/ARSA probe hybridization signal of the fetus disappeared in one chromosome of 22q11.2. Conclusion: MLPA could provide more information in the diagnosis of 22q11.2 microdeletion syndrome than FISH.

参考文献/References:

参考文献 [1]Antshel KM,Abdulsabur N,Roizen N,et al.Sex differences in cognitive functioning in velocardiofacial syndrome (VCFS)[J].Dev Neuropsychol,2005,28(3):849 [2]尹玉竹,佘芹,章钧,等.22q11.2微缺失综合征的分子诊断及缺失范围检测[J].实用儿科临床杂志,2012,27(20):1563 [3]McDonaldMcGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome[M].Seattle:Press of University of Washington,1999. [4]李聪敏,张华,王艳丽,等.311例孕中期羊膜腔穿刺产前诊断研究[J].中国优生与遗传杂志,2011,19(3):63 [5]Piran S,Bassett AS,Grewal J,et al.Patterns of cardiac and extracardiac anomalies in adults with tetralogy of Fallot[J].Am Heart J,2011,161(1):131 [6]邓建英,张泽伟,李建华,等.评价多重连接探针扩增法诊断22q11.2微缺失结果研究[J].中华医学遗传学杂志,2011,28(2):190 [7]Looman WS,Thurmes AK,O'connerVon SK,et al.Quality of life among children with velocardiofacial syndrome[J].Cleft Palate Craniofac J,2010,47(3):273 [8]Cordovez JA,Capasso J,Lingao MD,et al.Ocular manifestations of 22q11.2 microduplication[J].Ophthalmology,2014,121(1):392 [9]McdonaldMcginn DM,Fahiminiya S,Revil T,et al.Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS[J].J Med Genet,2013,50(2):80 [10]Ogilvie CM,Ahn JW,Mann K,et al.A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report[J].Mol Cytogenet,2009,2(2):9 [11]Tang J,SternNezer S,Liu PC,et al.Mutation in the leucinerich repeat Cflanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor[J].Thromb Haemost,2004,92(1):75 [12]潘高峰,李斌.DiGeorge综合征3例诊治体会[J].郑州大学学报:医学版,2010,45(1):153 [13]阎萍,张晓航,姚宏,等.胎儿先天性心脏病与染色体异常的临床分析[J].第三军医大学学报,2012,34(2):126

备注/Memo

备注/Memo:
△女,1979年10月生,硕士,主治医师,研究方向:出生缺陷干预、产前诊断,E-mail:wangliyana1979@126.com
更新日期/Last Update: 1900-01-01