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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
Chapters
- 00:04Title
- 00:44PCR Amplification
- 02:20Purification of the PCR Products
- 03:52Fragment Sizing of PCR Products
- 05:32-SB”
- 06:18Results: Quantification of CGG Repeats of FMR1
- 07:29Conclusion
Un test précis et robuste basé sur la réaction en chaîne de polymérase pour quantifier les répétitions de trinucleotide cytosine-guanine-guanine dans le gène fragile x de retardmental-1 facilite le diagnostic moléculaire et le criblage du syndrome de LX fragile et du X fragile-connexe avec un délai d'attente plus court et des investissements dans l'équipement.
