新生儿中常见的9个耳聋基因突变位点筛查分析  

Mutation analysis of 9 mutation spots related to neonatal deafness by DNA microarray

作　　者：胡华梅[1] 胡华[1] 董艳玲[1] 徐刚[1] 胡斌[1] 龙洋[1] 姚宏[1] 

机构地区：[1]第三军医大学西南医院妇产科,产前诊断中心,重庆400038

出　　处：《第三军医大学学报》2012年第2期96-98,共3页Journal of Third Military Medical University

摘　　要：目的采用遗传性耳聋基因芯片对新生儿进行突变筛查,评估新生儿中9个常见耳聋基因突变的频率、突变类型以及其与耳聋的相关性。方法经产妇及家属的知情同意,并自愿要求行耳聋基因检测,收集本科室2010年8月至2011年9月出生的新生儿脐带血756例,提取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(35 del G、176 del 16、235 del C、299 del AT)、GJB3(538 C>T)、SLC26A4(IVS7-2A>G、2168 A>G)、线粒体DNA 12S rRNA(1555 A>G、1494 C>T),对阳性结果进行测序验证。结果 756例新生儿检测出GJB2(235del C)突变15例,GJB2(176 del 16)突变1例,GJB2(299 del AT)突变4例,SLC26A4(IVS 7-2 A>G)突变13例,SLC26A4(2168 A>G)突变1例,12S rRNA(1555 A>G)均质突变型1例,测序结果与基因芯片结果一致。结论在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基因的突变较为少见。Objective To screen the hereditary deafness genes by DNA microarray in newborns, evaluate the mutation types and frequencies of 9 mutation spots, and identify the relationship between these mutations and deafness. Methods A total of 756 umbilical cord blood samples of newborns without hereditary deafness history were collected after informed consent was signed by their parents. Genomic DNA was extracted and then 9 hot mutation spots in 4 deafness genes were detected by microarray, which included GJB2 （35 del G, 176 del 16,235 del C and 299 del AT）, GJB3 （538 C 〉T）, SLC26A4 （IVS 7-2 A 〉G, 2168 A 〉G）, and mitochondial 12S rRNA （ 1555 A 〉 G , 1494 C 〉 T）. Positive microarray results were verified by DNA sequencing. Results Fifteen cases had GJB2 mutation （235 del C）, 13 cases SLC26A4 mutation （IVS 7-2 A 〉 G）, 4 cases GJB2 mutation （299 del AT）, 1 case GJB2 mutation （176 del 16）, 1 case SLC26A4 mutation （2168 A 〉 G）, and 1 case 12S rRNA mutation （ 1555 A 〉 G）. The sequencing results were consistent with the microarray results. Conclusion Among those newborns without family history of deafness, the mutation frequency of GJB2 is higher than SLC26A4 in this study, and mutation of GJB3 is rare. Mutation screening for hereditary deafness related genes play an important role in the early detection and proper treatment for neonatal deafness, and in the instruction for marriage and breeding.

关 键 词：耳聋 GJB2基因 SLC26A4基因 突变 

分 类 号：R722.104[医药卫生—儿科] R764.43[医药卫生—临床医学]