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JoVE Journal Genetics
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
 

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Article DOI: 10.3791/59963-v • 08:22 min • September 16th, 2019
September 16th, 2019 •
*1, *2,3, *3,4, 2, 2,3, 2,3, 2, 5, 5, 6,7, 2,3
1Central Laboratory, Bao'an Maternity and Child Health Hospital, Jinan University, 2Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 3Shenzhen Research Institute, The Chinese University of Hong Kong, 4Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 5PerkinElmer Diagnostics, 6Department of Obstetrics and Gynecology, Bao'an Maternity and Child Health Hospital, Jinan University, 7Maternal-Fetal Medicine Institute, Bao'an Maternity and Child Health Hospital, Jinan University
* These authors contributed equally

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résumé
Automatic Translation

An accurate and robust polymerase chain reaction-based assay for quantifying cytosine-guanine-guanine trinucleotide repeats in the Fragile X mental retardation-1 gene facilitates molecular diagnosis and screening of Fragile X syndrome and Fragile X-related disorders with shorter turn-around time and investment in equipment.

Tags

Polymerase Chain Reaction PCR-based Assay Cytosine-guanine-guanine Trinucleotide Repeats Fragile X Mental Retardation-1 Gene Molecular Diagnosis Fragile X-related Disorders Robustness Rapid Reporting Time Weng Chua PerkinElmer Singapore PCR Buffer Mix Sample Diluent DNA Samples Spectrophotometer Nanograms Per Microliter PCR Plate Reference DNA Samples Tested DNA Samples Negative Control Samples PCR Master Mix Polymerase
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