佛山地区孕妇线粒体耳聋基因突变分析

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Abstract Objective To analyze the mitochondrial deafness gene mutation spectrum of pregnant women in Foshan area. Methods From January 2020 to April 2021, 20 299 pregnant women in the outpatient clinic of Foshan Maternity and Child Health Hospital were selected as the research objects. Flow-through hybridization was used to screen common deafness susceptibility genes, and Sanger sequencing method was used to detect mitochondrial DNA mutations.Results A total of 739 cases (3.64%) of common deafness gene mutations were detected, of which 349 cases (47.22%)were 235delC heterozygous mutations in Gap Junction β2 protein. Sanger sequencing method detected 130 cases of 24 mutation sites in mitochondria, of which m.12192G＞A, m.7443A＞G, m.7445A＞T were pathogenic mutations. Conclusion The flow-through hybridization combined with Sanger sequencing method has important value in the prevention and control of deafness. Mitochondrial gene sequencing has enriched the mutation spectrum in Foshan area, which can provide better genetic counseling and life guidance.

Key words： Pregnant women Deafness genes Mitochondrial genes Sequencing Flow-through hybridization Mutation

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	SONG Chun-lin
	DENG Lu-sha
	CHEN Shu-fen
	ZHOU Cheng

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SONG Chun-lin,DENG Lu-sha,CHEN Shu-fen, et al. Analysis of mutations of mitochondrial deafness genes in pregnant women in Foshan area[J]. 中国当代医药, 2021, 28(30): 23-26.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2021/V28/I30/23

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