Article
Newborn dried blood-spot screening of the p.V37I variant of GJB2 by high-resolution melting analysis.
International journal of pediatric otorhinolaryngology - 1 Jul 2014
Chen Ying, Li Lei, Sun Lian-hua, Yang Tao, Wu Hao
Abstract excerpt
OBJECTIVES: To establish a high-throughput, low-cost method for neonatal genetic testing of the p.V37I of GJB2 gene, which is highly prevalent in East Asians and strongly associated with postnatal childhood hearing impairment. METHODS: A total of 6460 newborn blood-spot DNA samples were screened by high-resolution melting analysis (HRMA). RESULTS: The screening results were further verified by direct sequencing...
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