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目的通过新生儿脐带血耳聋致病基因检测,以了解杭州地区耳聋基因的突变携带率和突变类型,为当地大规模开展耳聋基因筛查提供依据。方法收集杭州地区部分分娩医院1398名分娩时新生儿的脐带血,应用基质辅助激光解吸附/电离飞行时间质谱技术(Matrix Assi sted Laser Desorption/ionization Time-of-flight Mass Spectrometry,简称MALDI-TOF-MS)对以下22个突变位点:GJB2基因突变位点为c.35de1G、c.167de1T、c.176_191de1GCTGC从G从CGTGTG、c.235de1C、c.299_300de1AT;SLC26A4基因突变位点为c.281C>T、c.919-2A>G、c.1226G>A、c.1707+5G>A、c.2027T>A、c.2168A>G、c.589G>A、c.11 74A>T、c.1229C>T、c.1975G>C、c.2162C>T;12S rRNA突变位点为m.1494C>T、m.1555A>G、m.7445A>G、m.12201T>C;GJB3基因突变位点为c.538C>T、c.547G>A进行检测。结果 1 398名新生儿中共检测出突变81例,突变携带率5.79%。其中GJJB2突变26例,突变携带率1.86%;GJB3突变4例,突变携带率0.29%;SLC26A4突变40例,突变携带2.86%;12SrRNA突变11例,突变携带率0.78%。结论在杭州地区新生儿常见的耳聋基因具有较高的携带率,在扩大筛查住点后可提高检出率,尤其是SLC26A4基因和线粒体DNA 12S rRNA基因的突变率明显增加。在本地区开展新生儿脐带血耳聋基因筛查,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重要意义。
Objective To detect the gene mutation of cord blood deafness in neonates to understand the mutation carrying rate and mutation types of deafness gene in Hangzhou area and provide evidence for large scale local deafness gene screening. Methods The umbilical cord blood of 1398 newborn infants born at some delivery hospitals in Hangzhou area was collected and analyzed by Matrix Assi sted Laser Desorption / ionization Time-of-flight Mass Spectrometry (MALDI-TOF- MS) for the following 22 mutations: GJB2 gene mutation sites c.35de1G, c.167de1T, c.176_191de1GCTGC from G from CGTGTG, c.235de1C, c.299_300de1AT; SLC26A4 gene mutation site for c.281C> T, c.919-2A> G, c.1226G> A, c.1707 + 5G> A, c.2027T> A, c.2168A> G, c.589G> A, c.11 74A> T, c .1229C> T, c.1975G> C, c.2162C> T; The mutation sites of 12S rRNA were m.1494C> T, m.1555A> G, m.7445A> G, m.12201T> Site for c.538C> T, c.547G> A for testing. Results A total of 1 398 newborn infants detected 81 mutations and the mutation carrying rate was 5.79%. GJJB2 mutation in 26 cases, the mutation carrying rate of 1.86%; GJB3 mutation in 4 cases, mutation carrying rate of 0.29%; SLC26A4 mutation in 40 cases, mutation carrying 2.86%; 12SrRNA mutation in 11 cases, the mutation carrying rate of 0.78%. Conclusions The most common deafness gene in newborns in Hangzhou area is high carrier rate, which can increase the detection rate after screening. Especially, the mutation rate of SLC26A4 gene and mitochondrial DNA 12S rRNA gene is obviously increased. In the region to carry out neonatal umbilical cord blood deafness gene screening, with no injury, family members accept the advantages of genetic deafness gene early diagnosis, early intervention and genetic counseling is of great significance.