微阵列基因芯片技术在新生儿遗传性耳聋筛查中的应用价值

Application Value of Microarray Gene Chip Technology in Screening of Neonatal Hereditary Hearing Loss

目的探讨微阵列基因芯片技术在新生儿遗传性耳聋(HHL)筛查中的应用价值。方法选取2020年1月至2021年10月于许昌市妇幼保健院接受HHL筛查的51409例新生儿为研究对象。新生儿均接受微阵列基因芯片检查。对芯片检测结果阳性的新生儿进行基因测序检验。分析微阵列基因芯片技术在新生儿HHL筛查中的应用价值。结果51409例新生儿经HHL微阵列基因芯片检测,结果显示阳性2694例(5.24%),阴性48715例(94.76%)。经基因测序验证,2694例HHL微阵列基因芯片检测阳性患儿均阳性,其中GJB2基因杂合突变型1379例,GJB3基因杂合突变型199例,SLC26A4基因947例,线粒体12S rRNA基因164例,双杂合突变型5例。微阵列基因芯片技术诊断HHL新生儿基因杂合突变类型与基因测序检验结果一致性较好(Kappa=0.884,P<0.05)。结论微阵列基因芯片技术在HHL新生儿基因筛查中具有良好的应用价值,可明确多数HHL患儿的基因携带情况。

Objective To explore the application value of microarray gene chip technology in the screening of neonatal hereditary hearing loss(HHL).Methods A total of 51409 newborns who received screening of HHL in Xuchang Maternal and Child Health Care Hospital from January 2020 to October 2021 were selected as the research subjects.All newborns were examined by microarray gene chip.The newborns with positive chip test results were tested by gene sequencing.The application value of microarray gene chip technology in gene screening of neonatal HHL was analyzed.Results Among 51409 newborns who were detected by HHL microarray gene chip,the results showed that 2694 cases were positive,accounting for 5.24%,and 48715 cases were negative,accounting for 94.76%.Gene sequencing confirmed that 2694 children with HHL were positive by microarray gene chip,of which there were 1397 cases of GJB2 gene heterozygous mutation,199 cases of GJB3 gene heterozygous mutation,947 cases of SLC26A4 gene,164 cases of mitochondrial 12S rRNA gene and 5 cases of double heterozygous mutation.The gene heterozygous mutation types of HHL newborns diagnosed by microarray technology are in good agreement with the results of gene sequencing(Kappa=0.884,P<0.05).Conclusion Microarray gene chip technology has good application value in gene screening of neonatal HHL,which can identify the gene carrying status of most HHL children.