Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China

doi:10.3109/00016489.2015.1006334

CORC > 兰州大学 > 兰州大学 > 第二临床医学院 > 期刊论文

	Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China
	Duan, SH; Zhu, YM; Wang, YL; Guo, YF; Guo, YF (reprint author), Lanzhou Univ, Hosp 2, Dept Otolaryngol Head & Neck Surg, 82 Cuiyingmen St, Lanzhou 730030, Gansu, Peoples R China.
刊名	ACTA OTO-LARYNGOLOGICA
	2015-06
卷号	135 期号:6 页码:586-591
关键词	Deafness-related genes GJB2 SLC26A4 mtDNA1555A > G Han Chinese Hui people Tibetan
ISSN号	0001-6489
DOI	10.3109/00016489.2015.1006334
文献子类	Article
英文摘要	Conclusions: In the study population in northwest China, a total of 33.06% of deaf patients have inherited hearing impairment caused by GJB2, SLC26A4, and mtDNA 1555A>G mutations. The mutation frequencies of GJB2, SLC26A4, and mtDNA 1555A>G genes were 16.12%, 10.54%, and 6.4%, respectively, in our study cohort. Thus, screening is conventionally performed for GJB2, SLC26A4, and mtDNA 1555A>G in these populations. Objective: This study aimed to investigate the mutations of GJB2, mitochondrial DNA 12S rRNA1555A>G, and SLC26A4 genes in Han Chinese, Hui people, and Tibetan ethnicities in patients with nonsyndromic hearing loss (NSHL) in northwest China. Methods: A total of 484 unrelated subjects with hearing loss who attended special education schools in northwest China were enrolled in this study. Three prominent deafness-related genes, GJB2, SLC26A4, and mtDNA 1555A>G, were screened for mutations in our study cohort. Results: The mutation frequencies of GJB2, SLC26A4, and mtDNA 1555A>G genes were 16.12%, 10.54%, and 6.4%, respectively. The prevalence of GJB2 mutations was 17.52%, 15.35%, and 11.43% in Han Chinese, Hui people, and Tibetan participants, respectively. c. 235delC was the most prevalent mutation, accounting for 65.71% of all GJB2 mutant alleles. The prevalence of SLC26A4 mutations was 12.39%, 8.84%, and 8.57% in Han Chinese, Hui people, and Tibetan participants, respectively. The c. 919-2 A>G mutation was the most common form, accounting for 60.47% of all SLC26A4 mutant alleles. The prevalence of the homoplasmic mtDNA 1555A>G mutation was 8.97%, 3.72%, and 5.71% in Han Chinese, Hui people, and Tibetan participants, respectively, which represents a statistically significant difference between the Han Chinese and Hui people (chi(2) = 5.118, p < 0.05).
学科主题	Otorhinolaryngology
出版地	LONDON
资助项目	国家自然科学基金项目 ; 甘肃省青年科技基金计划
项目编号	National Natural Science Foundation of China [81172765] ; Gansu Young and Middle-Aged Scientists [0711RJYA009]
语种	英语
WOS记录号	WOS:000354215700010
资助机构	NSFC ; GSSTD
内容类型	期刊论文
源URL	[http://ir.lzu.edu.cn/handle/262010/179366]
专题	第二临床医学院_期刊论文
通讯作者	Guo, YF (reprint author), Lanzhou Univ, Hosp 2, Dept Otolaryngol Head & Neck Surg, 82 Cuiyingmen St, Lanzhou 730030, Gansu, Peoples R China.
推荐引用方式 GB/T 7714	Duan, SH,Zhu, YM,Wang, YL,et al. Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China[J]. ACTA OTO-LARYNGOLOGICA,2015,135(6):586-591.
APA	Duan, SH,Zhu, YM,Wang, YL,Guo, YF,&Guo, YF .(2015).Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China.ACTA OTO-LARYNGOLOGICA,135(6),586-591.
MLA	Duan, SH,et al."Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China".ACTA OTO-LARYNGOLOGICA 135.6(2015):586-591.