淄博市23689例新生儿耳聋基因筛查结果分析

Genetic Screening of Deafness Gene for 23689 Newborns

目的探讨淄博市新生儿常见耳聋基因突变检出率,为遗传性聋的防治和生育咨询指导提供参考。方法采集淄博市2019年1~11月出生的共23689例新生儿足跟血,采用微阵列基因芯片法对中国人群4个常见耳聋基因(GJB2、SLC26A4、GJB3和线粒体DNA 12SrRNA)的15个突变位点(GJB2c.35 del G、c.235 del C、c.299 del AT、c.176 del 16;GJB3c.538 C>T;SLC26A4c.2168 A>G、c.IVS7-2 A>G、c.IVS15+5 G>A、c.1975 G>C、c.2027 T>A、c.1226 G>A、c.1229 C>T、c.1174 A>T;线粒体DNA12SrRNAm.1495 C>T、m.1555 A>G)进行检测,分析各基因突变的检出率及性别差异。结果23689例样本中共有1162例(4.90%,1162/23689)新生儿检测到耳聋基因突变,其中GJB2基因608例(52.32%,608/1162)、SLC26A4基因396例(34.08%)、GJB3基因96例(8.26%,96/1162)和线粒体DNA 12SrRNA基因45例(3.87%,45/1162)。不同性别新生儿之间基因突变检出率(男性4.92%,女性4.89%)差异无统计学意义(P>0.05)。结论淄博市新生儿GJB2基因突变检出率最高,其次是SLC26A4基因突变,GJB3基因和线粒体DNA 12SrRNA基因突变较为少见。

Objective To screen and analyze the common mutation sites of hereditary deafness gene in newborns in Zibo,providing theories and data for hereditary hearing loss prevention and fertility counseling.Methods Heel blood of 23689 newborns born in Zibo from January to November 2019 were collected,and fifteen mutation sites of four hereditary hearing loss genes(GJB2,SLC26A4,GJB3 and mtDNA 12SrRNA)were detected by DNA microarray.Results Of 23689 newborns,1162 carried pathogenic mutations.The carrier rates of GJB2(c.35 del G,c.235 del C,c.299 del AT,c.176 del 16,235 del C,299 del AT),GJB3(c.538 C>T),SLC26A4(c.2168 A>G,c.IVS7-2 A>G,c.IVS15+5 G>A,c.1975 G>C,c.2027 T>A,c.1226 G>A,c.1229 C>T,c.1174 A>T),and mtDNA 12SrRNA(m.1495 C>T,m.1555 A>G)mutations were 52.32%,8.26%,34.08%and 3.87%,respectively.Logistic regression analysis indicated no statistically significant relationship between mutations and infant sex,premature delivery,twin status,or birth weight(P>0.05).Conclusion We delineated the mutation profile of common deafness-causing genes in Zibo and the mutation frequency of GJB2 was higher than that of SLC26A4 in this study,and mutation in GJB3 and mitochondrial mtDNA 12SrRNA were rare.