Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region
2 ARTICLES PUBLISHED IN JoVE
Genetics
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Baoheng Gui *1,2,3, Yingxin Zhang *4, Bo Liang 5, Yvonne Ka Yin Kwok 4, Wai Ting Lui 4, Queenie Sum Yee Yeung 4, Lingyin Kong 6, Liming Xuan 6, Jacqueline Pui Wah Chung 4, Kwong Wai Choy 3,4
1Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 2Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, 3Shenzhen Research Institute, The Chinese University of Hong Kong, 4Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 5State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, 6Basecare Medical Device Co., Ltd
Here, we introduce a semiconductor sequencing method for preimplantation genetic testing for aneuploidy (PGT-A) with the advantages of short turnaround time, low cost, and high throughput.
Genetics
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Huilin Wang *1, Xiaofan Zhu *2,3, Baoheng Gui *3,4, Wan Chee Cheung 2, Mengmeng Shi 2,3, Zhenjun Yang 2,3, Ka Yin Kwok 2, Ricky Lim 5, Sanna Pietilä 5, Yuanfang Zhu 6,7, Kwong Wai Choy 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
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.
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