Validation of a robust PCR-based assay for quantifying fragile X CGG repeats
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- 作者：Yvonne K. Kwoka ; kky254@ha.org.hk" class="auth_mail" title="E-mail the corresponding author ; Kit Man Wonga ; cherrywong@cuhk.edu.hk" class="auth_mail" title="E-mail the corresponding author ; Fai Man Lob ; dr.ivanlo@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Grace Wing Shan Konga ; gracekong@cuhk.edu.hk" class="auth_mail" title="E-mail the corresponding author ; J. Kent Moorec ; Kent.Moore@PerkinElmer.com" class="auth_mail" title="E-mail the corresponding author ; Shaoping Wuc ; Shaoping.WU@PERKINELMER.COM" class="auth_mail" title="E-mail the corresponding author ; Stephen T.S. Lamb ; taksumlam@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Mack Schermerc ; Mack.Schermer@perkinelmer.com" class="auth_mail" title="E-mail the corresponding author ; Tak Yeung Leunga ; tyleung@cuhk.edu.hk" class="auth_mail" title="E-mail the corresponding author ; Kwong Wai Choya ; d ; e ; richardchoy@cuhk.edu.hk" class="auth_mail" title="E-mail the corresponding author
- 关键词：Fragile X ; PCR ; FMR1 ; Full mutation ; Trinucleotide repeats ; Capillary electrophoresis
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 May 2016
- 年：2016
- 卷：456
- 期：Complete
- 页码：137-143
- 全文大小：938 K
文摘
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This PCR-based method is highly accurate on identifying all Fragile X alleles.
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All repeat sizes could be sized on a low-cost electrophoresis method—Bioanalyzer.
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This assay avoids reflex testing by Southern-blot in homozygous normal female.