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摘要: 目的:分析广西地区耳聋人群中230例SLC26A4常见耳聋基因突变特点,为临床防聋及治聋提供参考。方法:对广西地区230例耳聋人群采用晶芯[XCR2.tif]十五项遗传性耳聋基因检测试剂盒(微阵列芯片法),对SLC26A4耳聋基因常见的8个突变位点进行检测,并对检测结果及突变阳性患者的内耳CT表型进行统计学分析。结果:230例耳聋患者中,6例存在耳聋基因突变,阳性率为2.61%(6/230)。SLC26A4 IVS7-2A>G杂合突变2例(0.87%,2/230),1229C>T纯合突变1例(0.43%,1/230),IVS7-2A>G/IVS11+47T>C/1548insC复合杂合突变2例(0.87%,2/230),1226G>A复合杂合突变1例(0.43%,1/230)。结论:广西地区耳聋人群SLC26A4耳聋基因突变率低于全国水平,主要以IVS7-2A>G突变位点为主,其中新发现的突变位点有2个:IVS11+47T>C和1548insC,广西地区可能存在罕见的致聋基因突变位点。Abstract: Objective:To investigate the mutation characteristics of SLC26A4 gene from 230 hearing loss patients in Guangxi region.Method:Two hundred thirty patients with hearing loss were enrolled in the study. Eight mutation sites in SLC26A4 gene were tested; the types of gene mutation and the inner ear CT features of the mutation-positive patients were analyzed.Result:Among 230 deafness patients,the total mutation rate of SLC26A4 gene is 2.61%(6/230). The types of gene mutation include SLC26A4 IVS7-2A>G heterozygous in 2 case(0.87%).1226G>A homozygous in 1 cases(0.43%),IVS7-2A>G,IVS11+47T>C and 1548insC mutations in 2 cases(0.87%).Conclusion:The mutation rate of SLC26A4 gene in Guangxi region is lower than the national average level. The main mutation type in Guangxi region is SLC26A4 IVS7 2A>G. In this study, two gene mutations (SLC26A4 IVS11+47T>C and 1548insC) are firstly found, suggesting that some rare mutation types of SLC26A4 may exist in patients living in Guangxi region.
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Key words:
- genetic diseases /
- gene mutation /
- enlargement of vestibular aqueduct
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[1] 袁永一,黄德亮,戴朴,等.赤峰市特教学校耳聋患者GJB2和GJB3及GJB6基因突变分析[J].临床耳鼻咽喉头颈外科杂志,2008,22(1):14-21.
[2] 张亚梅,张天宇.实用小儿耳鼻咽喉科学[M].北京:人民卫生出版社,2011:114-120.
[3] 柴永川.SLC26A4基因突变在耳聋疾病中的作用[J].听力学及言语疾病杂志,2011,19(4):376-379.
[4] 袁永一,黄莎莎,王国建,等.27个省市聋校学生基于SLC26A4基因IVS7-2A>G突变的全序列分析[J].中华耳科学杂志,2011,9(1):17-23.
[5] 赵亚丽,李庆忠,翟所强,等.国人前庭水管扩大患者SLC26A4基因的特异性突变[J].听力学及言语疾病杂志,2006,14(2):93-96.
[6] 袁永一,戴朴,王国建,等.大前庭水管相关SLC26A4基因热点突变区域筛查方案探讨[J].中华耳科学杂志,2010,8(3):292-295.
[7] TSUKAMOTO K,SUZUKI H,HARADA D,et al.Distribution and frequencies of PDS(SLC26A4)mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct:a unique spectrum of mutations in Japanese[J].Eur J Hum Genet,2003,11:916-922.
[8] PARK H J,LEE S J,JIN H S,et al.Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans[J].Clin Genet,2005,67:160-165.
[9] CAMPBELL C,CUCCI R A,PRASAD S,et al.Pendred syndrome,DFNB4,and PDS/SLC26A4identification of eight novel mutations and possible genotype-phenotype correlations[J].Hum Mutat,2001,17:403-411.
[10] SHIN J W,LEE S C,LEE H K,et al.Genetic Screening of GJB2and SLC26A4in Korean Cochlear Implantees:Experience of Soree Ear Clinic[J].Clin Exp Otorhinolaryngol,2012,5 Suppl 1:S10-13.
[11] 曲长红,张宁,曹东华,等.240例耳聋患者常见耳聋基因筛查分析[J].解放军医学院学报,2014,35(10):1019-1021.
[12] 陈红胜,梅凌云,贺楚峰,等.湖南地区汉族非综合征型耳聋相关基因检测及热点突变分析[J].中国耳鼻咽喉颅底外科杂志,2013,19(6):475-480.
[13] 华映坤,马恒,刘德胜,等.云南省573名非综合征型聋学生SLC26A4基因IVS7-2A>G和2168A>G的检测分析[J].听力学及言语疾病杂志,2014,22(5):518-520.
[14] 田颖,王铮,杨宁,等.辽宁地区非综合征型耳聋患者常见耳聋基因突变分析[J].临床耳鼻咽喉头颈外科杂志,2014,28(16):1244-1247.
[15] 赵慧茹,廖世秀,丁雪冰,等.河南汉族64例非综合征性耳聋的基因芯片诊断[J].山西医科大学学报,2012,43(9):649-651.
[16] 大连地区108例非综合征性耳聋者及亲属耳聋基因测序结果分析[J].中华耳科学杂志,2014,12(2):283-289.
[17] 袁永一,黄莎莎,王国建,等.27个省市聋校学生基于SLC26A4基因IVS7-2A>G突变的全序列分析[J].中华耳科学杂志,2011,9(1):17-23.
[18] 赵恒静,李红辉,赵翠.柳州地区161例先天性感音神经性耳聋患者易感基因突变检测调查分析[J].柳州医学,2011,24(1):6-8.
[19] 陈俞,赵娟,皮力东·库亚西,等.新疆不同民族耳聋人群耳聋基因常见突变的筛查[J].新疆医科大学学报,2011,34(8):850-854.
[20] 郭舜民,林文津,李瑞玉,等.畲族人群遗传性非综合征性常见耳聋基因突变谱的筛查[J].中国民族民间医药,2012,21(18):5-6.
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