Article
Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array.
American journal of audiology - 8 Mar 2018
He Xuehu, Li Xiuzhong, Guo Yaqi, Zhao Yue, Dong Hui, Dong Jie, Zhong Li, Shi Zhiyun, Zhang Yuying, Soliman Mario, Song Chunhua, Zhao Zhijun
Abstract excerpt
PURPOSE: This study screens for deafness gene mutations in newborns in the Northwest China population. METHOD: The 9 sites of 4 common deafness genes (GJB2, GJB3, SLC26A4, and mt 12S rRNA) were detected by bloodspot-based gene chip array in 2,500 newborns. RESULTS: We detected mutations of the 4 genes in 101 (4.04%) newborns; particularly, 0.20% detected the double mutations. In the Hui population, 4.58% of the...
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