宁波新生儿遗传性耳聋基因突变1781例分析

doi:10.3969/j.issn.1006-9771.2020.05.023

Abstract

Abstract:

Objective To analyze the mutation types and frequency of deafness genes in Ningbo newborns.Methods From January to September, 2019, 1781 newborns in Ningbo Women and Children's Hospital accepted deafness gene screening, including 22 mutations of four common deafness genes.Results There were 104 newborns who were found deafness gene mutation (5.84%), 59 boys and 45 girls. Mutation rate was 3. 31% (59/1781) for GJB2, 0.56% (10/1781) for GJB3, 0.39% (7/1781) for mtDNA, and 1.57% (28/1781) for SLC26A4.Conclusion The mutation rate of deafness gene in newborns in Ningbo is higher than the China average level, especially the rate of GJB2. It is necessary to screen newborn deafness gene earlier.

Key words: hereditary hearing loss, newborn, hearing screening, gene mutation

CLC Number:

R764.43

BAO You-wei,PAN Xiao-li,PAN Shu-qing,PAN Jie-wen,LI Hai-bo. Deafness Gene Mutations in Ningbo: 1781 Newborns Study[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2020, 26(5): 607-609.

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耳聋基因	突变位点	n	%
GJB2	35delG	0	0
	176-191delGCTGCAAGAACGTGTG	4	0.22
	299-300delAT	10	0.56
	167delT	0	0
	235delC	45	2.53
GJB3	538C>T	7	0.39
	547G>A	3	0.17
mtDNA	1494C>T	1	0.06
	7445A>G	0	0
	1555A>G	6	0.34
	12201T>C	0	0
SLC26A4	281C>T	0	0
	919-2A>G	17	0.95
	1226G>A	0	0
	1707±5G>A	1	0.06
	2027T>A	0	0
	2168A>G	4	0.22
	589G>A	2	0.11
	1174A>T	3	0.17
	1229C>T	1	0.06
	1975G>C	0	0
	2162C>T	0	0

Deafness Gene Mutations in Ningbo: 1781 Newborns Study

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