基因芯片法检测21例耳聋患者基因突变的研究

Study of gene mutation in 21 deaf patients with DNA microarray

目的探讨基因芯片在耳聋基因筛查中的应用价值。方法对扬州市聋哑学校21例8～18岁的耳聋患者中4个耳聋相关基因上的9个热点突变进行检测,包括GJB2(35 delG、176 del16、235 delC及299 delAT)、GJB3(C538 T)、SLC26 A4(IVS7-2 A>G、A2168 G)以及线粒体12 S rRNA(A1555G、C1494T)。结果 SLC26A4突变阳性率为38%(8/21),其中IVS7-2A>G杂合突变7例,IVS 7-2 A>G与A 2 1 6 8 G杂合突变1例;GJB 2突变阳性率为1 9%(4/2 1),其中1 7 6 del 1 6杂合突变1例,299 delAT杂合突变1例,176 del 16与235 del C杂合突变1例,235 del C纯合突变1例。结论基因芯片是一种筛查耳聋基因的高效、经济、简便、灵敏及特异性方法。

To investigate the application o~ DNA microarray to the screening of deafness gene mutations. Methods Twenty one deaf patients aged from 8 to 18 years were extracted for peripheral blood. DNA microarray was applied to detecting mutations of 9 hotspots in ,four most common patholgic genes, namely GJB2 （35delG, 176de116, 235delC, 299delAT） , GJB3 （C538T）, SLC26A4 （IVS7-2A 〉 G, A2168G） and mitochondrial 12S rRNA （A1555G, C1494T）. Results SLC26A4 gene mutations were detected in 8 cases （38%） , including IVS7-2A 〉 G heterozygons mutation in 7 and IVS7-2A 〉 G and 2168A 〉 G heterozygous mutation in one. Four eases （19%） carried GJB2 gene mutations, including 176 del 16 heterozygons mutation （n = 1 ） , 299 delAT heterozygons mutation （ n = 1 ） , 176 del 16 and 235 del C heterozygons mutation （ n = 1 ） , and 235 del C homozygous mutation （n = 1 ）. Conclusion DNA microarray is a sensitive and specific method for screening sequence variation in deafness gene.