Application of SNPscan in Genetic Screening for Common Hearing Loss Genes

被引：2

作者：

Gao, Zixuan ^{[1
]}

Lu, Yu ^{[2
]}

Ke, Jia ^{[1
]}

Li, Tao ^{[1
]}

Hu, Ping ^{[1
]}

Song, Yu ^{[1
]}

Xu, Chiyu ^{[1
]}

Wang, Jie ^{[1
]}

Cheng, Jing ^{[3
]}

Zhang, Lei ^{[3
]}

Duan, Hong ^{[2
]}

Yuan, Huijun ^{[3
]}

Ma, Furong ^{[1
]}

机构：

[1] Peking Univ, Hosp 3, Dept Otolaryngol, Beijing, Peoples R China

[2] Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R China

[3] Third Mil Med Univ, Southwest Hosp, Ctr Med Genet, Chongqing, Peoples R China

来源：

PLOS ONE | 2016年 / 11卷 / 10期

关键词：

MUTATIONS; GJB2; DEAFNESS; IMPAIRMENT; SPECTRUM;

D O I：

10.1371/journal.pone.0165650

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The current study reports the successful application of a fast and efficient genetic screening system for common hearing loss (HL) genes based on SNPscan genotyping technology. Genetic analysis of 115 variants in common genes related to HL, GJB2, SLC26A4 and MT-RNR, was performed on 695 subjects with non-syndromic hearing loss (NSHL) from the Northern China. The results found that 38.7% (269/695) of cases carried bi-allelic pathogenic variants in GJB2 and SLC26A4 and 0.7% (5/695) of cases carried homoplasmic MT-RNR1 variants. The variant allele frequency of GJB2, SLC26A4 and MT-RNR1 was 19.8% (275/1390), 21.9% (304/1390), and 0.86% (6/695), respectively. This approach can explain similar to 40% of NSHL cases and thus is a useful tool for establishing primary molecular diagnosis of NSHL in clinical genetics.

引用

页数：12

共 20 条

[1] Prevalent connexin 26 gene (GJB2) mutations in Japanese [J].

Abe, S ;

Usami, S ;

Shinkawa, H ;

Kelley, PM ;

Kimberling, WJ .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) :41-43

[2] Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness [J].

Dai, P ;

Liu, X ;

Han, DY ;

Qian, YP ;

Huang, DL ;

Yuan, HJ ;

Li, WM ;

Yu, F ;

Zhang, RN ;

Lin, HY ;

He, Y ;

Yu, YJ ;

Sun, QZ ;

Qin, HY ;

Li, RH ;

Zhang, X ;

Kang, DY ;

Cao, JY ;

Young, WY ;

Guan, MX .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2006, 340 (01) :194-199

[3] GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment [J].

Dai, Pu ;

Yu, Fei ;

Han, Bing ;

Liu, Xuezhong ;

Wang, Guojian ;

Li, Qi ;

Yuan, Yongyi ;

Liu, Xin ;

Huang, Deliang ;

Kang, Dongyang ;

Zhang, Xin ;

Yuan, Huijun ;

Yao, Kun ;

Hao, Jinsheng ;

He, Jia ;

He, Yong ;

Wang, Youqin ;

Ye, Qing ;

Yu, Youjun ;

Lin, Hongyan ;

Liu, Lijia ;

Deng, Wei ;

Zhu, Xiuhui ;

You, Yiwen ;

Cui, Jinghong ;

Hou, Nongsheng ;

Xu, Xuehai ;

Zhang, Jin ;

Tang, Liang ;

Song, Rendong ;

Lin, Yongjun ;

Sun, Shuanzhu ;

Zhang, Ruining ;

Wu, Hao ;

Ma, Yuebing ;

Zhu, Shanxiang ;

Wu, Bai-lin ;

Han, Dongyi ;

Wong, Lee-Jun C. .

JOURNAL OF TRANSLATIONAL MEDICINE, 2009, 7

[4] A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss [J].

Du, Wan ;

Cheng, Jing ;

Ding, Hui ;

Jiang, Zhengwen ;

Guo, Yufen ;

Yuan, Huijun .

GENOMICS, 2014, 104 (04) :264-270

[5] Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) [J].

Everett, LA ;

Glaser, B ;

Beck, JC ;

Idol, JR ;

Buchs, A ;

Heyman, M ;

Adawi, F ;

Hazani, E ;

Nassir, E ;

Baxevanis, AD ;

Sheffield, VC ;

Green, ED .

NATURE GENETICS, 1997, 17 (04) :411-422

[6]

Gabriel H, 2001, Hum Mutat, V17, P521, DOI 10.1002/humu.1138

[7] Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics? [J].

Hilgert, Nele ;

Smith, Richard J. H. ;

Van Camp, Guy .

MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH, 2009, 681 (2-3) :189-196

[8] Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China [J].

Ji, Yu-Bin ;

Han, Dong-Yi ;

Lan, Lan ;

Wang, Da-Yong ;

Zong, Liang ;

Zhao, Fei-Fan ;

Liu, Qiong ;

Benedict-Alderfer, Cindy ;

Zheng, Qing-Yin ;

Wang, Qiu-Ju .

ACTA OTO-LARYNGOLOGICA, 2011, 131 (02) :124-129

[9] Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non-syndromic hearing loss [J].

Jiang, Hua ;

Chen, Jia ;

Shan, Xin-Ji ;

Li, Ying ;

He, Jian-Guo ;

Yang, Bei-Bei .

MOLECULAR MEDICINE REPORTS, 2014, 10 (01) :379-386

[10] GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review [J].

Kenneson, A ;

Braun, KV ;

Boyle, C .

GENETICS IN MEDICINE, 2002, 4 (04) :258-274

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