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  5. Newborn Dried Blood-Spot Screening of the p.V37I variant of GJB2 by High Resolution Melting Analysis

Newborn Dried Blood-Spot Screening of the p.V37I variant of GJB2 by High Resolution Melting Analysis

来源 :The 4th East Asian Symposium on Otology(第四届东亚耳科研讨会) | 被引量 : 0次 | 上传用户：z4360877
【摘 要】
：
Objective: To establish a high-throughput, low-cost method for neonatal genetic testing of the p.V37I of GJB2 gene, which is associated with PCHI.Methodology: A total of 6460 newborn blood-spot DNA sa
【作 者】
：
Ying Chen Lei Li Lian-hua Sun Tao Yang Hao Wu 
【机 构】
：
Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China
【出 处】
：
The 4th East Asian Symposium on Otology(第四届东亚耳科研讨会)
【发表日期】
：
2014年8期
【关键词】
：
Screening HRM V37I GJB2 
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Objective: To establish a high-throughput, low-cost method for neonatal genetic testing of the p.V37I of GJB2 gene, which is associated with PCHI.Methodology: A total of 6460 newborn blood-spot DNA samples were screened by high resolution melting analysis (HRMA).Result: The screening results were further verified by direct sequencing of 28 homozygous, 545 heterozygous and 200 wildtype samples.
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