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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
Capitoli
- 00:04Titolo
- 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
Ein genauer und robuster, auf Polymerasekettenreaktion basierender Assay zur Quantifizierung von Cytosin-Guanin-Guanin-Trinukleotid-Wiederholungen im Fragile X-Gen für geistige Retardierung-1 erleichtert die molekulare Diagnose und das Screening des Fragile X-Syndroms und des fragilen X-bezogenen Störungen mit kürzerer Umschaltzeit und Investitionen in Ausrüstung.
