中文摘要：

目的探讨GJB2基因突变在甘肃省特有少数民族耳聋人群中的分布,并分析其民族特异性。方法在签署知情同意书的前提下,采集甘肃省特有的东乡族、保安族及裕固族中184例重度至极重度感音神经性聋患者的外周静脉血,提取DNA,针对GJB2基因的编码区行PCR扩增及DNA序列测定,分析GJB2基因突变在这三个民族耳聋患者中的分布,并与已经完成的本地区464例汉族感音神经性聋患者的相应数据进行比较。结果 GJB2基因在东乡族155例、裕固族12例、保安族17例和汉族464例耳聋患者中的致病等位基因频率分别为9.03%（28/310）、12.5%（3/24）、5.88%（2/34）、12.17%（113/928）,三个特有少数民族与汉族均无统计学差异。c.235delC和c.299_300delAT是东乡族的热点突变,等位基因频率均为3.87%（12/310）,在所有致病等位基因中占85.71%（24/28）。裕固族c.35delG的等位基因频率最高,为8.33%（2/24）,汉族中c.235delC是热点突变,等位基因频率为10.35%（96/928）,东乡族c.299_300delAT和裕固族c.35delG的等位基因频率[分别为30.87%（12/310）、8.33%（2/310]均高于汉族[分别为0.43%（4/928）、0.54%（5/928）]。结论在甘肃省特有的东乡族、保安族和裕固族非综合征型聋患者中GJB2基因突变具有相似的分布且与汉族类似;东乡族与裕固族GJB2基因的热点突变与汉族不同。

英文摘要：

Objective To understand the prevalence of GJB2gene mutation and to analyze the specificity of deaf people from sole minority nationalities in Gansu province.Methods Peripheral blood samples were obtained from people with moderately severe to profound sensorineural hearing loss（NSHL）in Dongxiang,Yugur and Bonan aren in Gansu province to extract genomic DNA.The codings of GJB2gene were analyzed by PCR and direct sequencing,and compared with the data of 464patients with SNHL from ethnic Han in Gansu.Results GJB2gene Plutation was detated in 155cases in 9.03%（28/310）Dongxiang,12cases in 12.5%（3/24）Yugur,17cases in 5.88%（2/34）Bonan and 464cases in 12.17%（113/928）Han,respectively.There was no difference of among each sole minority nationality and ethnic Han.The allele frequency of c.235delC and c.299_300delAT which were the main mutations while,ethnic Dongxiang,were both 3.87%（12/310）,accounted for 85.7%in all pathogenic mutated alleles.c.35delG was the highest allele frequency which was 8.33%（2/24）in ethnic Yugur,and c.235delC was the most common mutation in ethnic Han with,the allele frequency of 10.35%（96 / 928）,which was it is higher than those the allele frequencis of c.299_300delAT in ethnic Dongxiang and c.35delG in ethnic Yugur.Conclusion The prevalence of GJB2gene mutation in sole minority nationalities in Gansu province is similor with that of in ethnic Han.National specificity exists between ethnic Dongxiang,Yugur and Han in mutation hotspots of GJB2gene.