大连地区耳聋人群常见聋病基因突变的研究

Study on common gene mutation of the deaf population in Dalian

关键词:  耳聋  基因芯片  筛查  GJB2  SLC26A4  mtDNA12SrRNA  GJB3

Key words:  [Key words]　deafness  genechip  screening  GJB2  SLC26A4  mtDNA12SrRNA  GJB3

摘要:

[摘要]　目的　筛查分析大连地区耳聋人群中4个耳聋基因的9个位点的突变携带及分布状况，以探讨大连地区耳聋患者常见聋病基因突变特点及发病率。　方法　采用基因芯片检测5 266例耳聋患者4个聋病基因中常见的9个位点：GJB2基因的35delG、176del16、235delC和299delAT，SLC26A4基因的2168A>G和IVS7-2A>G，线粒体DNA(mtDNA)12SrRNA基因的1555A>G和1494C>T，GJB3基因的538C>T。采用SPSS19.0软件对数据进行统计学分析。　结果　大连地区5 266例耳聋人群中，发现携带遗传性耳聋相关突变基因的患者1 416例（26.89%，1 416/5 246），其中GJB2基因突变携带者657例（12.48%，657/5 266），SLC26A4基因突变携带者512例（9.72%，512/5 266），mtDNA 12S rRNA线粒体基因突变携带者239例（4.54%，239/5 266），GJB3基因突变携带者8例（0.15%，8/5 266）。　结论　应用基因芯片可以高效、快速地在大样本人群中，尤其是聋人群体中进行大规模的基因筛查；大连地区耳聋人群携带遗传性耳聋相关突变基因的发生率均较低。

Abstract:

[Abstract] Objective　To screen and analysis the most common pathologic genes which are carried and distributed in the deaf population in Dalian, to explore the characteristics and incidence rate of the deafness patients in Dalian.　Methods　5266 deafness patients were detected with the gene chip, which is able to perform mutation detection of 9 hot-spot mutations in four most common pathologic genes,including GJB2(35delG，176del16，235delC and 299delAT), SLC26A4(2168A>G and IVS7-2A>G), mtDNA12SrRNA (1555A>G,1494C>T), GJB3538C>T simutaneously. The datas were analyzed by using SPSS19.0 software.　Results　Among the 5 246 deafness patients, 1 416 cases were found to carry the most common pathologic genes (26.89%, 1 416/5 266), GJB2 gene mutation carriers in 657 cases (12.48%, 657/5 266), SLC26A4 gene mutation carriers in 512 cases (9.72%, 512/5 266), mtDNA 12S rRNA carriers in 239 cases (4.54%, 239/5 266), GJB3 gene mutation carriers in 8 cases (0.15%, 10/5 266).　Conclusion　The gene chip can be efficiently and quickly used in large sample populations, especially for the large-scale s gene defect screening. The mutation rate is relatively low for the deaf population in Dalian.