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Birth Defects Prevention and Control Institute 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 Liang⁵, Yvonne Ka Yin Kwok⁴, Wai Ting Lui⁴, Queenie Sum Yee Yeung⁴, Lingyin Kong⁶, Liming Xuan⁶, Jacqueline Pui Wah Chung⁴, 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 Cheung², Mengmeng Shi^2,3, Zhenjun Yang^2,3, Ka Yin Kwok², Ricky Lim⁵, Sanna Pietilä⁵, 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.