韶关地区1242例新生儿耳聋易感基因筛查结果分析

目的研究韶关地区新生儿耳聋易感基因携带情况,为开展遗传咨询和建立耳聋防控体系提供科学依据。方法采用多重PCR联合导流杂交技术检测1 242例新生儿的4个耳聋基因的13种突变位点。结果耳聋基因携带者共检出53例(4. 27%,53/1 242),其中SLC26A4检出24例(1. 93%,24/1 242); GJB2检出19例(1. 53%,19/1 242); mt DNA检出8例(0. 64%,8/1 242); GJB3检出2例(0. 16%,2/1 242)。结论韶关地区人群最主要的耳聋基因是SLC26A4,IVS7-2A>G为其突变热点;其次是GJB2基因,235delC为其突变热点。对新生儿人群进行耳聋易感基因筛查,有助于遗传性耳聋的早发现、早干预,具有良好的临床应用价值。

Screening results of deafness susceptibility genes among 1,242 newborns in Shaoguan region

Objective To study the carrying status of deafness susceptibility genes among newborns in Shaoguan region, and to provide a scientific basis for developing genetic counseling and establishing a deafness prevention and control system. Methods Multiplex PCR combined with diversion hybridization technology was used to detect 13 hotspot mutations of four deafness-associated genes in 1,242 newborns. Results A total of 53 (4.27%, 53/1,242) deafness-associated gene carriers were detected, of which SLC26A4 was detected in 24 cases (1.93%, 24/1,242), GJB2 in 19 cases (1.53%, 19/1,242), mtDNA in 8 cases (0.64%, 8/1,242) and GJB3 in 2 cases (0.16%, 2/1,242). Conclusions The main deafness-associated genes in Shaoguan region are SLC26A4 and GJB2, and their mutation hotspots are IVS7-2A>G and 235delC respectively. Screening the neonatal population for deafness susceptibility genes is conducive to early detection and early intervention of hereditary deafness, and has a good clinical application value.