CAJ | 학술논문

目的通过对新生儿进行聋病易感基因和听力筛查，探讨聋病易感基因筛查应用于新生儿筛查的必要性，为制订防聋治聋策略提供依据。方法以941例新生儿作为研究对象，所有新生儿出生时采脐带血,采用限制性内切酶酶切结合直接测序的方法对3种国人常见耳聋易感基因(线粒体DNA 12S rRNA、GJB2、SLC26A4）突变热点进行筛查,运用SPSS 13.0软件对结果进行统计分析。结果3种基因热点突变的总携带率为2.02%（19/941），GJB2基因235delC杂合突变9例(0.96%)，SLC26A4基因IVS7-2A>G杂合突变9例(0.96%),线粒体DNA 12S rRNA A1555G突变3例(0.32%)，其中2例为复合突变（235delC杂合突变/IVS7-2A>G杂合突变、1555A>G均质突变/235delC杂合突变）。GJB2基因235delC杂合突变在维吾尔族和汉族新生儿中的携带率分别为0.36％(1/276)、1.19％(7/586)；SLC26A4基因IVS7-2A>G杂合突变在维吾尔族和汉族新生儿中的携带率分别为0.36％(1/276)、1.37％(8/586)；线粒体DNA 12S rRNA 1555A>G突变在维吾尔族和汉族新生儿中的携带率分别为0.72％（2/276)、0％。在维吾尔族和汉族新生儿中，以上三基因突变携带率不同，但没有统计学差异。结论聋病易感基因筛查应用于维、汉族新生儿筛查必要且可行。
목적통과대신생인진행롱병역감기인화은력사사，탐토롱병역감기인사사응용우신생인사사적필요성，위제정방롱치롱책략제공의거。방법이941례신생인작위연구대상，소유신생인출생시채제대혈,채용한제성내절매매절결합직접측서적방법대3충국인상견이롱역감기인(선립체DNA 12S rRNA、GJB2、SLC26A4）돌변열점진행사사,운용SPSS 13.0연건대결과진행통계분석。결과3충기인열점돌변적총휴대솔위2.02%（19/941），GJB2기인235delC잡합돌변9례(0.96%)，SLC26A4기인IVS7-2A>G잡합돌변9례(0.96%),선립체DNA 12S rRNA A1555G돌변3례(0.32%)，기중2례위복합돌변（235delC잡합돌변/IVS7-2A>G잡합돌변、1555A>G균질돌변/235delC잡합돌변）。GJB2기인235delC잡합돌변재유오이족화한족신생인중적휴대솔분별위0.36％(1/276)、1.19％(7/586)；SLC26A4기인IVS7-2A>G잡합돌변재유오이족화한족신생인중적휴대솔분별위0.36％(1/276)、1.37％(8/586)；선립체DNA 12S rRNA 1555A>G돌변재유오이족화한족신생인중적휴대솔분별위0.72％（2/276)、0％。재유오이족화한족신생인중，이상삼기인돌변휴대솔불동，단몰유통계학차이。결론롱병역감기인사사응용우유、한족신생인사사필요차가행。
Objective To explore the necessity of the application of deafness-related gene tests to newborn screening and to provide reference for the development of strategies on the prevention and treatment of hearing loss. Methods The umbilical cord blood was collected from 941 newborns to receive the restriction fragment length polymorphism (RFLP) and direct sequencing test. The three common deafness-related genes (GJB2, SLC26A4 and mtDNA 12S rRNA) were screened and the results were analyzed with SPSS 13.0 software. Results Of the 941 newborns,19 carried the gene mutations(2.02%),including 9 cases with GJB2 235delC heterozygous mutation, 9 cases with SLC26A4 IVS7-2A>G heterozygous mutation and 3 cases with mtDNA 12S rRNA A1555G mutation. There were 2 cases with compound mutations (1 case with 235delC heterozygous mutation/ IVS7-2A>G heterozygous mutation and 1 case with 1555A>G homoplasmic mutation/235delC heterozygous mutation).The carrier rates of 235delC heterozygous mutation in Uyghur and Han newborns were 0.36%(1/276)and 1.19%(7/586),respectively. The carrier rates of SLC26A4 IVS7-2A>G heterozygous mutation in Uyghur and Han newborns were 0.36%(1/276) and 1.37%(8/586),respectively. The carrier rates of mtDNA 12S rRNA 1555A>G mutation in Uyghur and Han newborns were 0.72% (2/276)and 0%,respectively. There was no significant difference in the carrier rates of the three mutations between Uyghur and Han newborns. Conclusion It is necessary and feasible to apply deafness-related gene tests to newborn screening.