Study on relationship between SLC26A4 gene IVS16+10C>T mutation and hereditary deafness
10.3969/j.issn.1008-9691.2017.04.016
- VernacularTitle:SLC26A4基因IVS16+10C>T变异和遗传性耳聋的关系研究
- Author:
Rongchun GUAN
;
Chunying WANG
;
Xuehua QU
- Keywords:
Hearing threshold;
Hereditary deafness;
Gene mutation;
Polymerase chain reaction
- From:
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care
2017;24(4):401-404
- CountryChina
- Language:Chinese
-
Abstract:
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.
