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

目的 探讨云南省部分地区特教学校聋生携带钙整合素结合蛋白2 (calcium-and integrin-binding protein 2, CIB2) 基因196C>T, 272T>C和297 C>G突变的频率.方法 实验组选取337名非综合征型耳聋学生, 已明确其全部未携带GJB2 (35 del G, 176＿191 del 16, 235del C, 299＿300 del AT) 、GJB3 (C538T, G547A) 、mt DNA 12S r RNA (A1555G, C1494T) 和SLC26A4 (IVS7＿2A>G, A2168G) 致聋基因突变, 对照组采用150名健康人, 外周静脉采集EDTA抗凝管血液成分, 提取基因组DNA, 通过PCR扩增含CIB2基因196C>T, 272T>C和297 C>G的基因片段, 扩增产物直接测序鉴定其基因突变的位点.结果 在337名耳聋学生和150名健康人群中均未检测到CIB2基因196C>T, 272T>C和297 C>G突变.结论 CIB2基因196C>T, 272T>C和297C>G并非是云南省非综合征型耳聋患者携带的基因突变热点, 为该地区确定聋病基因筛查谱提供重要依据.

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

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.