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2002例新生儿9个遗传性耳聋基因突变位点筛查分析 被引量:10

Screening analysis on nine mutation sites of hereditary hearing loss genes in 2002 neonates
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摘要 目的:采用遗传性耳聋基因芯片对新生儿进行常见4个遗传性耳聋基因9个突变位点的筛查,了解柳州地区新生儿中遗传性耳聋基因的携带率及突变类型。方法:在柳州市市区、辖区6个县及3个周边县市10家妇幼保健院中,经新生儿监护人的知情同意,采集2012年3月-5月出生的新生儿脐带血2002份,提取全基因组DNA,用遗传性耳聋基因芯片检测中国人群中常见的4个耳聋相关基因的9个突变位点,包括GJB2基因(c.35delG、c.235delC、c.176del16和c.299delAT);GJB3基因(c.538C〉T);SLC26A4基因(c.919—2A〉G和c.2168A〉G);线粒体12SrRNA基因(m.1494C〉T和m.1555A〉G)。对阳性结果进行测序验证。结果:2002例新生儿检测出GJB2基因c.235delC、D176del16和c.299delAT三种突变共15例;SLC26A4基因c.919~2A〉G突变11例;GJB3基因c.538C〉T突变3例;线粒体12SrRNA基因m.1555A〉G突变3例。结论:在柳州地区没有耳聋家族史的新生儿中,GJB2基因的杂合突变率高于SLC26A4基因突变率,GJB3基因和线粒体12SrRNA基因突变较为少见。遗传性耳聋突变筛查对新生聋儿的早期发现、早期诊断和早期治疗具有很重要的作用。 Objective: To screen nine mutation sites of four hereditary hearing loss genies in neonates by DNA microarray, understand the carrying rate and mutation types of hereditary hearing loss genes in neonates in Liuzhou city. Methods: A total of 2 002 specimens of neonatal umbilical cord blood born from March to May in 2012 were collected after informed consent of neonatal guardians from 10 maternal and child health care hospitals in urban area, 6 counties and 3 adjacent counties (cities) of Liuzhou city, whole genome DNA was abstracted, hereditary hearing loss DNA microarray was used to detect nine mutation sites of four common hearing loss relevant genes in Chinese, including GJB2 gene (c. 35delG, c. 235delC, c. 176de116 and c. 299 delAT), GJB3 gene (c. 538C 〉 T), SLC26A4 gene (c. 919 - 2 A 〉 G and c. 2168 A 〉 G) and mitochondrial 12SrRNA gene ( m. 1494 C 〉 T and m. 1555 A 〉 G) ; the positive results were verified by DNA sequencing. Results: Among 2 002 neonates, 15 neonates were found with GJB2 gene mutation (c. 235 delC , c. 176de116 and c. 299delAT), 11 neonates were found with SLC26A4 geM mutation (c. 919 -2 A 〉 G), 3 neonates were found with GJB3 gene mutation (c. 538C 〉 T), 3 neonates were found with mitochondrial 12SrRNA gene mutation (m. 1555A 〉 G) . Conclusion: Among the neonates without family history of hearing loss in Liuzhou area, the mutation rate of heterozygous GJB2 gene is higher than that of SLC26A4 gene, mutations of GJB3 gene and mitochondrial 12SrRNA gene are few; hereditary hearing loss screening plays an important role in early detection, early diagnosis and early treatment of neonatal hearing loss.
出处 《中国妇幼保健》 CAS 北大核心 2014年第17期2772-2775,共4页 Maternal and Child Health Care of China
关键词 新生儿 遗传性耳聋 基因 Neonate Hereditary hearing loss Gene
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