Li Qi . Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment[J]. Journal of Kunming Medical University, 2018, 39(05): 7-10.
Citation: Li Qi . Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment[J]. Journal of Kunming Medical University, 2018, 39(05): 7-10.

Mutation Analysis of CIB2 196C>T 272T>C and 297 C>G in Patients with Non-syndromic Hearing Impairment

Funds:

基金: 国家自然科学基金资助项目 (31060155); 云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目 (2014FB092); 云南省教育厅理工类重点基金资助项目 (2014Z038);

  • Received Date: 2017-09-21
  • Objective To investigate the gene mutations of calcium-and integrin-binding protein 2 (CIB2) 196 C>T, 272 T > C and 297 C > G carried by students with non-syndromic hearing impairment from special educational schools in Yunnan Province. Me thods The experimental group included 337 students with non-syndromic hearing impairment who failed to carry deafness gene with GJB2 (35 del G, 176_191 del16, 235 del C, 299_300 del AT) , GJB3 (C538 T, G547 A) , mt DNA 12 S r RNA (A1555 G, C1494 T) , and SLC26 A4 (IVS7_2 A>G, A2168 G) . The control group consisted with 150 healthy people. Genomic DNA was isolated from peripheral blood with EDTA anti-coagulate. The subject's DNA fragments including CIB2 196 C>T, 272 T > C and 297 C > G were amplified by polymerase chain reaction (PCR) , and subsequently analyzed by direct sequencing to identify deafness-associated mutations. Re s ults Both in the experimental group and control group, we failed to find the mutation of CIB2 196 C>T, 272 T > C and 297 C > G in all individuals. Conclus ion Mutations in CIB2 gene 196 C>T, 272 T > C and 297 C > G are not a frequent cause of non-syndromic hearing loss among deaf people in Yunnan province. It provided important information for deafness with formulating landscape of gene screening in this region.
  • loading
  • [1]
    [1]MA Y, XIAO Y, BAI X, et al.GJB2, SLC26A4, and mitochondrial DNA12S r RNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China[J].Acta Otolaryngol, 2016, 136 (8) :800-805.
    [2]
    [2]JIANG H, LIU Q, CHEN L.Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss[J].Mol Med Rep, 2015, 12 (6) :8179-8184.
    [3]戴朴, 刘新, 于飞, 等.18个省市聋校学生非综合征性聋病分子流行病学研究 (Ⅰ) -GJB2 235del C和线粒体DNA 12Sr RNA A1555G突变筛查报告[J].中华耳科学杂志, 2006, 4 (1) :1-5.
    [4]华映坤, 马恒, 刘德胜, 等.云南省573名非综合征型聋学生SLC26A4基因IVS7_2A>G和2168 A>G的检测分析[J].听力学及言语疾病杂志, 2014, 22 (5) :510-514.
    [5]李雪涛, 刘德胜, 撒亚莲, 等.云南省部分聋生线粒体DNA12S r RNA A1555G和C1494T的突变[J].昆明医科大学学报, 2013, 34 (4) :4-7.
    [6]马静, 林垦, 毛志勇, 等.中国云南地区非综合征型感音神经性耳聋GJB2和GJB3基因突变分析[J].中国耳鼻咽喉颅底外科杂志, 2015, 21 (2) :99-103.
    [7]
    [7]YAMNIUK A P, NGUYEN L T, HOANG T T, et al.Metal ion binding properties and conformational states of calcium-and integrin-binding protein[J].Biochemistry, 2004, 43 (9) :2558-2568.
    [8]
    [8]RIAZUDDIN S, BELYANTSEVA I A, GIESE A P, et al.Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48[J].Nat Genet, 2012, 44 (11) :1265-1271.
    [9]
    [9]PATEL K, GIESE A P, GROSSHEIM J M, et al.A novel C-terminal CIB2 (calcium and integrin binding protein 2) mutation associated with non-syndromic hearing loss in a hispanic family[J].PLo S One, 2015, 10 (10) :e0141259.
    [10]刘德胜, 王金丽, 撒亚莲, 等.傣族、汉族非综合征型耳聋患者的GJB2基因分析[J].昆明医学院学报, 2012, 33 (10) :49-52.
    [11]王秋菊, 袁永一.常染色体隐性遗传性耳聋[J].听力学及言语疾病杂志, 2016, 24 (4) :421-424.
    [12]潘蕾, 刘宏彦, 刘瑾, 等.天津市81929例新生儿听力和聋病易感基因联合筛查情况分析[J].中国妇幼保健, 2016, 31 (4) :754-756.
    [13]
    [13]SECO CZ, GIESE AP, SHAFIQUE S, et al.Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells[J].Eur J Hum Genet, 2016, 24 (4) :542-549.
    [14]
    [14]BOOTH K T, AZAIEZ H, KAHRIZI K, et al.PDZD7 and hearing loss:More than just a modifier[J].Am J Med Genet A, 2015, 167A (12) :2957-2965.
    [15]
    [15]BLAZEJCZYK M, SOBCZAK A, DEBOWSKA K, et al.Biochemical characterization and expression analysis of a novel EF-hand Ca2+binding protein calmyrin2 (Cib2) in brain indicates its function in NMDA receptor mediated Ca2+signaling[J].Arch Biochem Biophys, 2009, 487 (1) :66-78.
    [16]
    [16]MARKOVA S, SAFKA BROZKOVA D, MESZAROSOVA A, et al.Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients[J].Int J Pediatr Otorhinolaryngol, 2016, 86 (7) :27-33.
  • Relative Articles

    [1] Lizhu ZHAO, Ying DONG, Yue DENG, Lihua YANG. Correlation between Epithelial Cell Related Genes and Prognosis of Patients with Ovarian Cancer based on Single Cell Sequencing. Journal of Kunming Medical University, 2024, 45(4): 9-16.  doi: 10.12259/j.issn.2095-610X.S20240402
    [2] Li DENG, Linhai CONG, Hongli FANG, Huifang GAO, Jiazhi YIN. Research Progress on Common Deafness Gene Screening in Chinese Newborns. Journal of Kunming Medical University, 2024, 44(1B): 1-3.
    [3] Shusheng LIAO, Hong CHEN, Mei LIU, Chengyu PAN, Aidi LUO, Li ZHANG. Clinical Characteristics and Genetic Testing of A Pedigree with Early-onset Parkinson's Disease Caused by PRKN Gene Mutation. Journal of Kunming Medical University, 2023, 44(5): 66-71.  doi: 10.12259/j.issn.2095-610X.S20230504
    [4] Ran ZHANG, Jie YANG, Enzi FENG, Xiaofeng YUAN, Qing WANG. Correlation between Gene Mutation and Invasiveness in Papillary Thyroid Carcinoma. Journal of Kunming Medical University, 2023, 44(2): 125-132.  doi: 10.12259/j.issn.2095-610X.S20230223
    [5] Haimei GOU, Li FANG, Xiaowu ZHONG. Relationship between Mutations of KRAS,NRAS and BRAF Genes and Colorectal Liver Metastases. Journal of Kunming Medical University, 2023, 44(1): 19-24.  doi: 10.12259/j.issn.2095-610X.S20230106
    [6] Linhai CONG, Yong TANG, Jiazhi YIN, Li DENG, Huifang GAO, Hongli FANG, Xin LI. Effect of MiR-26a-5p Regulating SLC26A4 to Ameliorate Hearing Loss in Deafness. Journal of Kunming Medical University, 2023, 44(6): 14-18.  doi: 10.12259/j.issn.2095-610X.S20230603
    [7] Xi ZHENG, Jinzhu MA, Qinchun LI, Yu GAO, Ying PAN, Guibo SONG. Mutation Analysis of OprD Gene in Pseudomonas Aeruginosa with Car-R/ Ceph-S. Journal of Kunming Medical University, 2023, 44(1): 7-11.  doi: 10.12259/j.issn.2095-610X.S20230121
    [8] Lianyong CHEN, Haohao RU, Xing YANG, Shuangqun YAN, Tao CHEN, Qinxuan NI, Lin XU. Characteristics of katG and inhA Gene Mutations in INH-Resistant Mycobacterium Tuberculosis in Yunnan Province. Journal of Kunming Medical University, 2022, 43(8): 28-33.  doi: 10.12259/j.issn.2095-610X.S20220803
    [9] Yang Hui Bo , Yu Run Liu , Miao Qin , Liu De Liang . . Journal of Kunming Medical University, 2020, 41(07): 144-148.
    [10] Ding Zhen Bo , Duan Jing , Lu Ping , Huang Yong Kun , Zhao Ya Ling , Luo Yan . . Journal of Kunming Medical University, 2020, 41(07): 89-93.
    [11] Zhong Min , Li Ya , He Zeng Pin , Zhang Hui , Duan Yong . . Journal of Kunming Medical University, 2019, 40(04): 126-130.
    [12] Li Xiao Qin , Zhou Min , Wang Lin , Zeng Hai Yan , Luo Peng Ju , Li Ying , Ran Li Quan . Comparative Analysis of Rifampicin-resistant Mutant Gene Detection of Mycobacterium Tuberculosis and Drug Sensitivity BD960. Journal of Kunming Medical University, 2019, 40(03): 112-115.
    [13] Tu Yun Gui , Du Qiong , Yu Ying Hui , Lv Jing Liang , Chen Tian Yan , Zhang You Wang , Li Jie , Chen Rui Xia , Song Yu . . Journal of Kunming Medical University, 2019, 40(12): 44-48.
    [14] Zhu Zhong Shan , Yan Wen Hui , Li Xiao Bing , Yang Zhou , Bai Peng . Driver Genes Mutation and Survival Analysis in 200 Patients with Pulmonary Adenocarcinoma Brain Metastasis. Journal of Kunming Medical University, 2018, 39(08): 47-50.
    [15] Qian Lu , Bian Li . Research Progress of EGFR Mutations in Lung Cancer and Targeted Drug Resistance Mechanisms. Journal of Kunming Medical University, 2017, 38(08): 126-129.
    [16] Zhao Fei , Jiang Yan Ling , Zhang Shou Xun , Xia Sheng , Bao Jian Jun , Zhang Nin , Yang Xiao Pei , Zhong Shu Rong . Pyrosequencing Detection Pass Ratio for DNA Methylation. Journal of Kunming Medical University, 2017, 38(10): 27-31.
    [17] Zhao Xiao Nan . Establishment of Detection Method for R292K and N294S Mutation Sites in H3N2 Influenza A Virus with TaqMan-MGB Probes. Journal of Kunming Medical University,
    [18] Shi Rou . . Journal of Kunming Medical University,
    [19] Li Xue Tao . . Journal of Kunming Medical University, 2013, 34(04): 1-1.
    [20] Liu De Sheng . . Journal of Kunming Medical University,
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Article Metrics

    Article views (2269) PDF downloads(42) Cited by()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return