中文摘要：

目的分析北京耳聋残疾人群中SLC26A4基因热点突变IVS7—2A〉G和2168A〉G发生频率，初步探讨SLC26A4基因热点突变在北京地区耳聋残疾人群中的分子诊断意义。方法抽查北京地区持耳聋残疾证患者6247例，均抽取外周静脉血并提取DNA，以博奥生物有限公司提供的晶芯⑧九项遗传性耳聋基因检测试剂盒（微阵列芯片）对SLC26A4基因的热点突变IVS7—2A〉G和2168A〉G进行检测，并对其发生频率进行分析。结果在6247名受检耳聋残疾人群中，携带SLC26A4基因IVS7—2A〉G和2168A〉G突变的例数共计177例，总阳性检出率为2．83％（177／6247）。IVS7—2A〉G突变携带者141例（纯合27例，单杂合突变114例），2168A〉G突变携带者26例（纯合4例，单杂合突变22例），SLC26A4基因2168A〉G／IVS7—2A〉G复合杂合突变携带者10例。针对IVS7—2A〉G和2168A〉G突变的SLC26A4基因双等位基因突变例数为41例，双等位基因突变率为0．66％（41／6247）。结论1、在6247例耳聋残疾人中，通过SLC26A4基因热点突变IVS7—2A〉G和2168A〉G检测能够明确分子学诊断的占总体的0．46％（41／6247）；2、在北京地区持证聋人群体中，SLC26A4基因热点突变检出率较我院门诊就诊的耳聋患者低，此项课题的开展，有助于了解北京地区残疾人群中与大前庭水管综合征密切相关的SLC26A4基因热点突变分布情况，在分子水平上为耳聋残疾人群明确诊断或指导进一步诊断，并对IVS7—2A〉G和2168A〉G突变检测阳性患者的婚配、生育具有一定的指导意义。

英文摘要：

Objective To study frequency of SLC26A4 genes hot-spot mutations IVS7-2 A〉G and 2168A〉G among deaf people in Beijing, to determine its value in molecular diagnosis among people with deafness. Mothods The study in- volved 6247 subjects in Beijing area with disability cards showing deafness-related disability. The genomic DNA sample was extracted from peripheral blood .The deafness SLC26A4 gene mutations of IVS7-2A〉G and 2168A〉G were distinguished by a gene test chip from CaptalBio Corporation and their frequencies analyzed. Results Among these heating disabled people in Beijing, 177 carried SLC26A4 IVS7-2 A〉G and 2168 A〉G mutations, yielding a positive detection rate of 2.83% （177/6247） and a diagnosis rate of 0.46% （41/6247）. There were 141 SLC26A4 IVS7-2 A〉G mutations carriers （27 homozygous mutation cases and 114 heterozygous mutation cases）, 26 SLC26A4 2168 A〉G mutations carriers （4 homozygous mutation cases and 22 heterozygous mutation cases） and 10 SLC26A4 2168A〉G/IVS7-2A〉G compound heterozygous mutation carriers. In 97.17%（6070/6247） of these hearing disabled persons SLC26A4 gene hot-spot mutations were not detected. Conclusions 1 .Molecu- lar diagnosis was established in 0.46% （41/6247） of this population of hearing disabled persons through testing SLC26A4 gene mutations IVS7-2 A〉G and 2168 A〉G. 2,The rate of SLC26A4 gene hot-spot mutations in Beijing area appears to be lower than among patients seen in our clinic. The study helps increase our understanding of the distribution of SLC26A4 gene hot-spot mutations in relation to enlarged vestibular aqueduct syndrome among hearing disabled people in Beijing area, im- prove diagnosis among hearing disabled people at the molecular level, and provide guidance in counseling patients with posi- tive IVS7-2 A〉G and 2168 A〉G mutations in marriage and reproduction..