新生儿中常见的九个耳聋基因突变位点的筛查研究-第三军医大学学报.DOC

新生儿中常见的九个耳聋基因突变位点的筛查研究 胡华梅，胡华，董艳玲，徐刚，胡斌，龙洋，姚宏 （400038 重庆，第三军医大学第一附属医院妇产科产前诊断中心） [摘要] 目的 采用遗传性耳聋基因芯片对我院出生的430个新生儿进行突变筛查，评估正常人群中常见九个耳聋基因突变的频率、突变类型以及这些突变与耳聋的相关性。方法 收集新生儿脐带血430例，提取DNA，用遗传性耳聋基因芯片检测4个中国人群中常见的耳聋相关基因的9个热点突变，包括GJB2(35delG、176del16bp、235delC、299delAT)、GJB3（C538T）、SLC26A4（IVS7-2A﹥G,A2168G）、线粒体DNA 12S rRNA（A1555G、C1494T），同时对阳性结果进行测序验证。结果 在430例新生儿中检测出GJB2-235杂合突变12例，，GJB2-176杂合突变1例，GJB2-299杂合突变2例，SLC26A4-IVS7-2杂合突变8例，SLC26A4( A2168G)杂合突变1例，12S rRNA（A1555G）均质突变型1例，测序结果与基因芯片结果一致。结论 在听力正常、没有耳聋家族史新生儿中GJB2基因杂合突变频率约为.3.4%, SLC26A4基因突变频率为2.1%。暂未发现GJB3基因的突变，对新生儿进行耳聋基因的突变筛查，对于耳聋患儿的检出、后期的干预治疗，以及对耳聋患者和突变携带者的婚育指导和后代耳聋风险评估具有重要的意义。 [关键词] 耳聋；GJB2基因；SLC26A4基因；突变 Analysis on mutations of nine genes related to the deafness in newborns by DNA microarray Hu Huamei，Hu Hua，Dong Yanling，Xu Gang，Hu Bin，Long Yang，Yao Hong (Department of prenatal diagnosis center, southwest hospital,third military medical university,chongqing 400038) [通信作者] 姚宏，电话：（023E-mial：yaohong1963@ [Abstract] Objective DNA microarray was used to screen the hereditary deafness gene of 430 newborns in our hospital，and to assess the relationship between nine common deafness gene mutation frequency, mutation type and deafness in newborns. Methods We collected umbilical cord blood from 430 cases of newborn, extracted DNA and detected nine normal hot mutation spots in Chinese people by microarray，which include GJB2(35delG、176del16bp、235delC、299delAT)、GJB3（C538T）、SLC26A4（IVS7-2A﹥G,A2168G）、DNA 12S rRNA（A1555G、C1494T）. Meanwhile, the positive spots were verified by sequencing. Results 12 cases of GJB2-235 mutation, 1 case of GJB2-176 mutation, 2 cases of GJB2-299 mutation, 8 cases of LC26A4-IVS7-2 mutation, 1 case of SLC26A4( A2168G) heterozygous mutation and 1 case of 12S rRNA（A1555G）mutation was detected among 430 babies. The sequencing results were consistent with that in microarray. Conclusion Among those newborns who have normal hearing and don’t have the family history of deafness, the m