SLC26A4基因IVS16＋10C〉T变异和遗传性耳聋的关系研究

Study on relationship between SLC26A4 gene IVS16＋10C〉T mutation and hereditary deafness

目的 探讨遗传性耳聋与SLC26A4基因IVS16＋10C〉T突变的关系.方法 选择2014年1月至2016年5月在黑龙江省齐齐哈尔医学院附属第三医院进行检查的遗传性耳聋患者102例作为观察组,另外选取听力正常者102例作为对照组.检测患者基因突变类型和听力阀值,并与对照组比较,分析GJB2、SLC26A4基因突变患者等位基因1、2的突变情况,采用聚合酶链反应（PCR）检测SLC26A4基因常见突变类型.结果 102例遗传性耳聋患者中,由SLC26A4基因突变引起耳聋患者较由GJB2基因突变引起耳聋者多（30例比15例）.与正常听力对照组比较,遗传性耳聋观察组GJB2和SLC26A4基因突变率明显增加 〔GJB2：14.71%（15/102）比2.94%（3/102）,SLC26A4：29.41%（30/102）比1.96%（2/102）,P〈0.01〕,并且观察组随耳聋病情严重程度的增加（轻度—中度—重度—极重度）,GJB2、SLC26A4基因突变率也呈增加趋势（GJB2为0.98%、1.96%、4.90%、6.86%,SLC26A4为4.90%、6.86%、7.84%、9.80%）.与对照组比较,观察组听力阀值明显增高（dB：67.83±8.96比10.43±2.89,P〈0.01）,观察组随耳聋病情严重程度增加听力阀值（dB）也逐渐增加（轻度—中度—重度—极重度分别为34.96±4.98、58.42±10.61、83.96±12.17、96.77±11.42）.30例SLC26A4患者中未出现IVS16＋10C＆gt;T类变异,表明在人群中IVS16＋10C＆gt;T类基因突变不是造成遗传性耳聋的基因突变类型.结论 SLC26A4基因IVS16＋10C＆gt;T变异与患者遗传性耳聋之间没有明显关系,可为临床预估患者下一代耳聋患病发生情况提供依据.

Objective To investigate the relationship between hereditary deafness and SLC26A4 gene IVS16＋10C〉T mutation.Methods One hundred and two patients with hereditary deafness admitted to the Third Affiliated Hospital of Qiqihar Medical College from January 2014 to May 2016 were enrolled and assigned as the observation group, and another 102 cases with normal hearing were selected as the control group. The gene mutation types and hearing thresholds were detected in the two groups and compared between them, the mutations of alleles 1 and 2 situations of patients with GJB2 and SLC26A4 mutations were analyzed, Ab initio software was used to predict whether there was obstacle preventing the recognition on slice sites, and polymerase chain reaction （PCR） was adopted to detect the common mutation types of SLC26A4 gene.Results In 102 patients with hereditary deafness, the cases caused by SLC26A4 gene mutations were more than those caused by GJB2 gene mutations （30 cases vs. 15 cases）. Compared with the normal hearing control group, the mutation rates of GJB2 and SLC26A4 genes were significantly increased in the observation group [GJB2： 14.71% （15/102） vs. 2.94% （3/102）, SLC26A4： 29.41% （30/102） vs. 1.96%（2/102）, bothP 〈0.01], and there was a tendency that the percentages of GJB2 and SLC26A4 mutations were increased （GJB2： 0.98%, 1.96%, 4.90%, 6.86%, SLC26A4： 4.90%, 6.86%, 7.84%, 9.80%） with the increase of the severity of deafness （mild—moderate—severe—extreme severe） in the observation group. Compared with the control group, the hearing threshold was significantly increased （dB： 67.83±8.96 vs. 10.43±2.89,P 〈 0.01）, and along with the increase of deafness severity （mild—moderate—severe—extreme severe）, the hearing threshold （dB） was increased （34.96±4.98, 58.42±10.61, 83.96±12.17, 96.77±11.42, respectively） in the observation group. Thirty patients with SLC26A4 gene did not show any IVS16＋10C〉T mutation, indicating that IVS16＋10C〉T gene mutation was not the cause of genetic deafness.Conclusion There is no obvious relationship between the IVS16＋10C〉T mutation of SLC26A4 gene and patients with hereditary deafness, which may provide a basis clinically for the prediction of deafness occurrence in the patient＇s next generation.