摘要
目的通过对洛阳地区4106例新生儿的耳聋致病基因进行检测,以了解洛阳地区耳聋基因的突变类型及其突变携带率,为当地大规模开展耳聋基因筛查提供依据。方法收集在洛阳市妇女儿童医疗保健中心分娩的部分(4106例)新生儿的足跟血,制成滤纸干血片,采用PCR与通用芯片相结合的技术,对滤纸干血斑基因组DNA中与遗传性耳聋相关的9个突变位点:GJB2基因突变位点为c. 35 del G、c. 176 del 16、c.235 del C、c.299 del AT;GJB3基因突变位点为c.538C>T;SLC26A4基因突变位点为c.2168 A>G、c.IVS7-2 A>G;12S rRNA突变位点为m.1494 C>T、m.1555 A>G进行检测。结果 4106例新生儿中共检测出突变198例,突变携带率4.82%。其中GJB2突变106例,突变携带率2.58%;GJB3突变16例,突变携带率0.39%;SLC26A4突变61例,突变携带率1.49%;12S rRNA突变11例,突变携带率0.27%。结论常见耳聋基因突变在新生儿中有较高的携带率。洛阳地区GJB2基因235delC突变是最常见的突变方式,其次是SLC26A4基因IVS7-2 A>G突变。在本地区开展新生儿耳聋基因筛查,具有无损伤、家属易接受的优点,对遗传性耳聋基因的早期诊断、早期干预及遗传咨询具有十分重要的意义。
Objective:To screen common mutations of deafness-related genes in 4106 newborns in luoyang in order to determine the carrier rate,types of mutation in luoyang area to provide a basis for local mass screening of deafness-related genes. Methods:Heel blood of 4106 newborns from Luoyang Maternal and Child Health Care Center were collected. Using PCR combined with deafness gene chip kit capable of detecting 9 mutation sites in four deafness-associated genes.Nine hot mutations including GJB2(c. del 35 G,c. 176 del 16,c. 235 del C,c. 299 del AT);GJB3(c.538 C>T); SLC26A4(c.2168 A>G、c.IVS7-2 A>G);12 S rRNA(m.1494 C>T、m.1555 A>G)were detected. Results:Among the 4106 newborns,198(4.82%)were diagnosed with mutations,including 106(2.58%)with GJB2 mutations,16(0.39%)with GJB3 mutations,61(1.49%)with SLC26A4 mutations,11(0.27%)with 12 S rRNA mutations. Conclusion:The deafness-related gene mutations had high detection rate in LuoYang. The mutation of GJB2 235 del C in luoyang area are the most common,followed by the mutation of SLC26A4(IVS7-2 A>G). Newborn screening for deafness-related gene mutations by heel blood has the advantages of no damage and easy accepting for parents. It plays an important role in the early detection,proper management and genetic counse for Hereditary Deafness.
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