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An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes

 

作者: M. Pierluigi,   C. Perfumo,   S. Cavani,   H. Lehrach,   D. Nizetic,   F. Dagna Bricarelli,  

 

期刊: Clinical Genetics  （WILEY Available online 1996）
卷期: Volume 49, issue 1  

页码: 32-36

 

ISSN:0009-9163

 

年代: 1996

 

DOI:10.1111/j.1399-0004.1996.tb04321.x

 

出版商: Blackwell Publishing Ltd

 

关键词: cosmid pocket;Down syndrome;FISH;uncultured amniocytes

 

数据来源: WILEY

 

摘要:

We report a modified method for the rapid detection of aneuploidies directly on human uncultured amniocytes that simplifies and shortens the entire experimental procedure, yielding signals which allow correct diagnosis of trisomy 21 in 97% of cases. The improvement is based on two points: 1) use of cosmid pockets specific for the Down's syndrome minimal region as FISH probes, and 2) a modified protocol for the fixation and preparation of amniocytes.

 

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