Article
Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
Journal of clinical laboratory analysis - 1 Jan 2023
Huang Quanfei, Liu Yanhui, Lei Wei, Liang Jiajie, Wang Yang, Zheng Minhua, Huang Xiaoyan, Liu Yuanru, Huang Kaisheng, Huang Min
Abstract excerpt
OBJECTIVES: Numerous diseases and disorders are associated with mitochondrial DNA (mtDNA) mutations, among which m.1555A > G and m.1494C > T mutations in the 12 S ribosomal RNA gene contribute to aminoglycoside-induced and nonsyndromic hearing loss worldwide. METHODS: A total of 76,842 qualified non-invasive prenatal (NIPT) samples were subjected to mtDNA mutation and haplogroup analysis. RESULTS: We detected...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
