GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects

doi:10.1080/00016480701767382

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	GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects
	Guo, YF; Liu, XW; Guan, J; Han, MK; Wang, DY; Zhao, YL; Rao, SQ; Wang, QJ; Wang, QJ (reprint author), Chinese Peoples Liberat Army Gen Hosp, Dept Otolaryngol Head & Neck Surg, Chinese Peoples Liberat Army Inst Otolaryngol, Beijing, Peoples R China.
刊名	ACTA OTO-LARYNGOLOGICA
	2008
卷号	128 期号:3 页码:297-303
关键词	prelingual deafness non-syndromic hearing loss genetic testing Chinese
ISSN号	0001-6489
DOI	10.1080/00016480701767382
文献子类	Article
英文摘要	Conclusion. This genetic epidemiological study demonstrated that 26.65% of the prelingual deafness in Northern Chinese patients can be detected at younger ages by genetic testing of three common hearing loss genes (GJB2, SLC26A4 and mtDNA A1555G), and thus, early intervention measures could be undertaken to help them in language acquisition. Objectives. The GJB2, SLC26A4 and mtDNA A1555G mutations are the prevalent causes of prelingual deafness worldwide. Numerous studies have revealed that the forms and frequencies of the mutations in the three genes are largely dependent on the ethnic or geographic origins. Hence, this study aimed to characterize the mutation profiles of the three genes in prelingual deafness in Northern Chinese patients. Subects and methods. An investigation of 514 patients with prelingual deafness and 117 controls with normal hearing was conducted. Bidirectional sequencing ( or enzyme digestion) was applied to identify sequence variations. Results. This study revealed that 26.65% patients had two mutated alleles ( homozygote or compound heterozygote) of GJB2 (9.14%) or SLC26A4 (8.95%) and/or an mtDNA A1555G (8.56%) mutation. In detail, 19.26% patients carried GJB2 mutations including 10.12% single mutant carriers. 235delC was the most common type, making up 69.18% of all mutants for GJB2. The mutant carrier rate for SLC26A4 was 15.2%, including 6.23% single mutant carriers. The two most common types (IVS7-2A > G and H723R) accounted for 51.61% and 33.06% mutations, respectively. Forty-five patients had mtDNA A1555G, giving a frequency of 8.75%. In the control group with normal hearing, 2.56%, 1.71% and 0% of the subjects carried a single mutant for GJB2, SLC26A4 and mtDNA A1555G, respectively.
学科主题	Otorhinolaryngology
出版地	OSLO
语种	英语
WOS记录号	WOS:000254394300012
内容类型	期刊论文
源URL	[http://ir.lzu.edu.cn/handle/262010/125980]
专题	第二临床医学院_期刊论文
通讯作者	Wang, QJ (reprint author), Chinese Peoples Liberat Army Gen Hosp, Dept Otolaryngol Head & Neck Surg, Chinese Peoples Liberat Army Inst Otolaryngol, Beijing, Peoples R China.
推荐引用方式 GB/T 7714	Guo, YF,Liu, XW,Guan, J,et al. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects[J]. ACTA OTO-LARYNGOLOGICA,2008,128(3):297-303.
APA	Guo, YF.,Liu, XW.,Guan, J.,Han, MK.,Wang, DY.,...&Wang, QJ .(2008).GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.ACTA OTO-LARYNGOLOGICA,128(3),297-303.
MLA	Guo, YF,et al."GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects".ACTA OTO-LARYNGOLOGICA 128.3(2008):297-303.