Mutation Analysis of CIB2 196C＞T 272T＞C and 297C＞G in Patients with Non-syndromic Hearing Impairment
10.3969/j.issn.1003-4706.2018.05.003
- VernacularTitle:云南337名非综合征型聋患者CIB2基因196C＞T,272T＞C和297C＞G突变分析
- Author:
Qi LI
1
;
Jun-Dong HE
;
Jin-Li WANG
;
Yong-Qin ZHENG
;
Rong-Xia ZUO
;
Ya-Lian SA
Author Information
1. 昆明理工大学附属医院
- Keywords:
Deafness;
CIB2 gene;
DNA;
Mutation;
Sequencing
- From:
Journal of Kunming Medical University
2018;39(5):7-10
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the gene mutations of calcium-and integrin-binding protein 2 (CIB2) 196C＞T, 272T ＞ C and 297C ＞ G carried by students with non-syndromic hearing impairment from special educational schools in Yunnan Province. Methods The experimental group included 337 students with non-syndromic hearing impairment who failed to carry deafness gene with GJB2 (35 del G, 176_191 del 16,235delC, 299_300 del AT), GJB3 (C538T,G547A), mtDNA 12S rRNA (A1555G, C1494T), and SLC26A4 (IVS7_2A＞G, A2168G) . 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 196C＞T, 272T ＞ C and 297C＞ G were amplified by polymerase chain reaction (PCR), and subsequently analyzed by direct sequencing to identify deafness-associated mutations. Results Both in the experimental group and control group, we failed to find the mutation of CIB2 196C＞T, 272T＞C and 297C＞G in all individuals. Conclusion Mutations in CIB2 gene 196C＞T, 272T＞C and 297C＞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.
