耳聋基因检测在诊断迟发型遗传性耳聋中的临床应用

The clinical application of deafness gene in the late onset type genetic deafness

目的利用基因检测技术筛查迟发型遗传性耳聋患者,给予指导、干预以提高后期生活质量。方法对健康体检儿童采集外周血血片,采用四引物扩增受阻突变体系PCR(ARMA-PCR)的方法,检测中国人群高突变频率耳聋基因位点,根据检测结果给予遗传咨询和预后、干预指导。结果检测出GJB2基因235 dec C携带者8例;SLC26A4基因IVS7-2 A>G携带者7例;线粒体12s rRNA 1555 A>G纯合突变1例。结论耳聋基因检测可应用于听力筛查,弥补传统听力筛查的漏洞,检出携带耳聋突变基因的高危人群,给予合理指导及干预。

Objective To technology screen patients with late onset hereditary deafness by usingUse theof genetic test, and to make guidance and intervention for improving the quality of late life. Methods Collecting peripheral blood of healthy check - up chil- dren were collected, using four primers PCR amplification blocked mutation system （ ARMA - PCR） method was used, and the gene locus of Chinese people high mutation frequency deafness was detectedion in Chinese people. Results 8 cases were carried GJB2 gene 235 decC ,7 cases were carried SLC26A4 gene IVS7 -2 A 〉 G, one case was carried Mitochondrial 12s rRNA 1555 A 〉 G homozygous muta- tions. Conclusion Deafness gene detection can be used in hearing screening. It makes up for the loopholes in traditional hearing screen- ing,the high risk population with deafness mutation gene should be detected, and to the reasonable guidance and intervention.