摘要
目的了解藏族非综合征性耳聋儿童患者中,常见致聋基因GJB2、SLC26A4、MTRNR1突变类型和发生率。方法选取27例藏族先天性、非综合征性、重度-极重度耳聋儿童患者,取外周血提取DNA,经聚合酶链反应扩增后,直接测序分析GJB2、SLC26A4、MTRNR1基因突变。结果 27例患儿中,未发现有GJB2、SLC26A4、MTRNR1三个基因编码区携带任何致病突变。只发现GJB2基因的2种常见多态性改变V27I(等位基因频率为27.8%)和E114G(等位基因频率为16.7%)。结论初步判断在大部分种族中最常见的耳聋基因GJB2、SLC26A4、MTRNR1基因,不是藏族耳聋病人的主要致病基因。
Objective To determine the prevalence of GJB2, SLC26A4 and MTRNR1 gene mutations in Tibetan children patients with nonsyndromic hearing loss. Methods We enrolled 27 Tibetan congenital non-syndromic deafness patients with serve to profound sensorineural hearing loss for mutation screening. Genomie DNA was extracted from the blood of all patients, amplified in PCR and analyzed by sequencing to detect mutations of GJB2, SLC26A4 and MTRNR1 gene. Results None in the 27 Tibetan patients carried pathogenic mutations in GJB2, SLC26A4 and MTRNR1 gene. Only two polymorphic variants of GJB2 gene,V27I（allele frequency of 27. 8% ）and Ell4G（allele frequency of 16.7% ） were detected. Conclusion The most prevalent patbogenicmutation of deafness in mostethnic groups are not detected in Chinese Tibetan patients.
出处
《西部医学》
2014年第12期1577-1580,共4页
Medical Journal of West China
基金
西藏自治区科技厅自然科学基金(Z2012A60G32/00)
