宁波地区非综合征型耳聋患儿耳聋基因热点突变筛查分析

目的筛查分析宁波地区非综合型耳聋(NSHL)患儿耳聋基因热点突变情况，了解该地区耳聋患儿分子流行病学特征。方法选取宁波市特殊教育中心就读的重度、极重度NSHL患儿168例，应用遗传性耳聋基因检测试剂盒，采用多重突变阻滞扩增系统毛细管电泳检测技术进行4个遗传性耳聋基因的29个位点的突变筛查。结果本研究NSHL患儿中检出耳聋基因热点突变58例（34.52%），其中单一GJB2基因热点突变者43例，单一SLC26A4基因热点突变者9例，GJB2基因合并SLC26A4基因热点突变者3例，12SrRNA基因热点突变3例；GJB2、SLC26A4、12SrRNA基因热点总突变率分别为27.38%、7.14%和1.79%。在所有热点突变中，以GJB2235delC突变率最高（23.21%），其次是GJB2299delAT（5.36%）。结论宁波地区NSHL患儿热点突变耳聋基因以GJB2基因和SLC26A4基因为主，且GJB2235delC是最常见突变位点。

Screening of hot-spot deafness gene mutations among children with non-syndromic hearing loss in Ningbo region

Objective To screen the hot-spot deafness gene mutation in children with non-syndromic hearing loss (NSHL) in Ningbo region. Methods One hundred and sixty eight NSHL children were enrolled from Ningbo Special Education Center for the study. The screening of 29 hot-spot mutations of 4 deafness genes was performed by multiple ARMS capillary electrophoresis using AGCU genetic deafness gene detection kit. Results Among 168 children, the deafness gene mutations were detected in 58 cases (34.52%), including 43 cases with single hotspot mutation in GJB2 gene, 9 with hotspot mutations in single SLC26A4 gene, and 3 with GJB2 gene and SLC26A4 gene mutation, and 3 with 12S rRNA gene mutation. The total hot spot mutation rate of GJB2 gene was 27.38%, that of SLC26A4 gene was 7.14%, and that of 12S rRNA gene was 1.79%. The mutation rate of GJB2 235delC was the highest (23.21%), followed by GJB2 299 del AT (5.36%) in all hotspots. Conclusion GJB2 and SLC26A4 are the main genes associated with non-syndromic deafness patients in Ningbo area, and GJB2 235delC is the most common mutation site.