西北地区非综合征型耳聋患者GJB2、SLC26A4基因突变的分子流行病学研究  

An Investigation of GJB2,SLC26A4 Gene Mutations in Nonsyndromic Hearing Loss in the Northwest of China

作　　者：郭玉芬[1] 刘晓雯[1] 关静[1] 徐百成[1] 韩明鲲[2] 赵翠[2] 赵亚丽[2] 王大勇[2] 兰兰[2] 鲍晓林[1] 王秋菊[2] 

机构地区：[1]兰州大学第二医院耳鼻咽喉-头颈外科,兰州730030 [2]解放军总医院耳鼻咽喉-头颈外科,解放军总医院耳鼻咽喉科研究所

出　　处：《听力学及言语疾病杂志》2008年第4期263-266,共4页Journal of Audiology and Speech Pathology

基　　金：国家863项目(2006AA02Z181);国家自然基金面上项目(30672310,30771203 & 30771857);高等学校全国优秀博士学位论文作者专项资金资助项目(200463);军队“十一五”杰出人才项目(06J018);北京市科技计划重大项目(D0906005040291);国家973项目(2007CB507400);北京市重大专项课题项目(7070002);国家“十一五”科技支撑计划(2006BAI02B06 & 2007BAI18B12);甘肃省中青年基金课题(3YS061-A25-012)联合资助

摘　　要：目的探讨GJB2、SLC26A4基因突变在中国西北地区非综合征型耳聋(nonsydromic hearing impair-ment,NSHI)患者中的突变频率及主要的突变方式。方法采集中国西北地区801例非综合征型耳聋患者血样,应用PCR技术扩增GJB2基因的编码区和SLC26A4基因第7、19外显子,PCR产物进行直接测序,运用DNAS-tar5.0或BioEdit软件进行测序结果分析。结果801例NSHI患者中共检测到125例发生GJB2基因突变,突变率为15.61%(125/801),其中双等位基因(纯合或复合杂合)突变率为8.99%(72/801),235delC约占所有突变的78.79%(156/198)。101人发生SLC26A4基因(P7、P19)IVS7-2A>G、H723R和T721M突变,突变率为12.61%(101/801),其中双等位基因突变率为5.12%(41/801)。结论在中国西北地区NSHI患者中,235delC是GJB2基因最常见的突变方式,IVS7-2A>G和H723R是SLC26A4基因主要的突变方式。Objective The study was to determine the occurring frequency and manner of the GJB2 gene andS1.C26A1 gene mutations from 801 patients with nonsyndromic hearing loss （NSHI） living in the northwest of China. Methods Blood samples were obtained from 801 patients with NSHI in northwest of China. Genomic DNA was extracted from the isolated leukocytes. PCR and direct sequencing were used to analyze the coding region of GJB2 gene and SI.C26A4 gene （exon 7, 19）. Results One hundred and twenty five of 801 NSHI patients（ 125/801, 15. 61%） were found to have GJB2 mutations, 8.99% （72/801） had biallelie mutations （homozygous or compound heterozygous）. The 235de1C mutation was the most common type of GJB2 mutation, accounting for 78. 79%（156/ 198）. 101 （101/801, 12. 61%） children were found to carry IVST--2A〉G, H723R and T721M mutations （SI.C26A4 gene） and 41（41/801, 5. 12%） had biallelic mutations （homozygous or compound heterozygous）. Conclusion The results indicate that 28.22% of the patients had GJB2 gene and SLC26A4 （IVST-2A〉G, H723R, T721M） mutations. The findings suggest that using the necessary DNA tests, approximately 14. 11 % of the non syndromic hearing loss be detected at younger ages in this region. Consequently, appropriate interventions can be undertaken to facilitate the speech and language development as early as possible.

关 键 词：聋 突变 GJB2基因 SLC26A4基因 等位基因 

分 类 号：R764.3[医药卫生—耳鼻咽喉科]