江苏南通地区重度-极重度耳聋患者SLC26A4基因全序列检测分析

Analysis of detecting of all-sequence of SLC26A4 gene among patients with severe-profound hearing loss in nantong,jiangsu

目的利用基因诊断方法探索江苏南通地区重度-极重度耳聋患者SLC26A4基因突变频率。方法收集江苏南通地区南通,通州,海安,如皋四所聋哑学校140例病因不明重度-极重度耳聋患者资料,进行血样采集,DNA提取,PCR扩增编码区(外显子2-21)全序列,应用SLC26A4基因c.919-2A>G突变诊断试剂盒和PAGE银染方法检测SLC26A4基因c.919-2A>G突变,变性高效液相色谱分析技术筛查PCR产物,DNA序列分析。结果 SLC26A4基因编码区全序列分析结果显示27例(19.3%)患者检测到了SLC26A4基因的的突变,包括双等位基因突变患者12例,单等位基因突变患者15例。结论江苏南通地区重度-极重度耳聋患者中SLC26A4基因突变发生率较高,提示此地区人群中具有SLC26A4基因突变的较高携带率。

Objective To investigate the incidence of SLC26A4 mutations by genetic testing method among patients with severe-profound hearing loss in Nantong, Jiangsu. Methods 140 patients with severe-profound hearing loss were enrolled from four Deaf and Dumb schools in Nantong, Tongzhou, Haian, Rugao. We collected 3-5ml blood from their peripheral blood, extracted DNA, amplified coding exons from 2 to 21 of the SLC26A4 gene by PCR, detected mutation of exon7＋8 c.919-2 A〉G using testing kit with PAGE silver staining, screened for these remained 18 exons by denaturing high performance liquid chromatography（DHPLC） and finally sequenced the exons which were showed abnormal by DHPLC. Results The sequencing results revealed 27（ 19,3% ）cases carrying SLC26A4 mutations, including 12 cases of bi-allelic mutations （8.6%）, 15 cases of single allelic mutation（10.7%）. Conclusions The patients with severe-profound hearing loss suffered from EVAS can be diagnosed by the screening for the SLC26A4 gene mutations which has unique advantage in epidemiologic study in large scale deaf and dumb population. The high incidence of the SLC26A4 gene mutations suggested the high carrying rate of SLC26A4 gene mutations in the general population of Nantong area.