郑州大学学报（医学版）Issue(1)：52-54,3.DOI:10.13705/j.issn.1671-6825.2015.01.014
MLPA技术在22q11．2微缺失综合征产前诊断中的应用
Application of MLPA in prenatal diagnosis of 22 q11 .2 microdeletion syn-drome
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
作者信息
- 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518000
- 3. 郑州大学第三附属医院检验科郑州450052
- 折叠
摘要
Abstract
Aim: 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 mi-crodeletion 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 TUP-LE1/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 .关键词
MLPA/22q11.2微缺失综合征/产前诊断Key words
MLPA/22q11.2 microdeletion syndrome/prenatal diagnosis分类
医药卫生引用本文复制引用
王莉娜,周世媛,张华,王凤羽,谢建生,杨博,周继苹..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,(1):52-54,3.
