Analysis on GJB2 gene mutations with nonsyndromic hearing impairment in Kazak patients of Xinjiang
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摘要: 目的：研究新疆哈萨克族非综合征型聋患者GJB2基因突变的情况。方法：调查对象为来自新疆地区的193例哈萨克族患者，采用直接测序法对非综合征型聋患者97例和健康对照96例进行GJB2基因突变的检测。结果：在编码区耳聋组共发现8种碱基改变：其中35 delG纯和12例，79G>A纯合5例，79G>A杂合8例，79G>A与608T>C复合杂合1例，79G>A与341A>G复合杂合5例，235 delC杂合4例，341A>G杂合2例，439T>G杂合1例，457G>A杂合1例，521G>A纯合2例。对照组发现4种已明确的常见多态性碱基改变。结论：本研究提示新疆哈萨克族非综合征型聋患者GJB2基因突变具有种族和地域性特点，该地区哈萨克族耳聋人群中GJB2有较高携带率，在本研究中35 delG为其常见突变方式。Abstract: Objective: To study mutations in the GJB2 gene in Kazak patients with nonsyndromic hearing impairment from Xinjiang.Method: One hundred and ninety-three cases of Kazak from the Xinjiang region, including 97 cases of hearing loss and 96 cases of normal people, were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing.Result: Eight kinds of mutation were found in the encoding region of hearing impairment group:12 cases of 35 delG homozygous,5 cases of 79G>A homozygous,8 cases of 79G>A heterozygous,1 case of 79G>A heterozygous and 608T>C heterozygous,5 cases of 79G>A heterozygous and 341A>G heterozygous,4 cases of 235 delC heterozygous,2 cases of 341A>G heterozygous,1 case of 439T>G heterozygous,1 cases of 457G>A heterozygous,2 cases of 521G>A homozygous.Four kinds of mutations found in the normal group were confirmed as common polymorphic mutation.Conclusion: The study suggests that the GJB2 gene mutation of the Kazak deaf population in Xinjiang has ethnic and regional characteristics.There is a rather high carrier frequency of GJB2 mutation of Kazak patients in Xinjiang.In this study the 35 delG mutation is a common mutation of Kazak patients.
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Key words:
- nonsyndromic hearing impairment /
- GJB2 /
- gene mutation /
- Kazak
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[1] MARAZITA M L, PLOUGHMAN L M,RAWLINGS B, et al.Genetic epidemiological studies of early-onset deafness in the US school-age population[J].Am J Med Genet,1993,46:486-491.
[2] POSUKH O,PALLARES-RUIZ N,TADINOVA V,et al.Frist molecular screening of deafness in the Altai republic population[J].BMC Med Gene,2005,6:12-18.
[3] ESTIVILL X,FORTINA P, SURREY S,et al. Connexin-26 mutations in Sporadic and inherited sensorineural deafness[J].Laneet,1998,351:394-398.
[4] 孟玮.云南省彝族遗传性非综合征性耳聋人群GJB2基因突变的研究[D].云南:昆明医学院,2006.
[5] 贝政平,舒怀,周梁,等.眼耳鼻咽喉科疾病诊断标准[M].2版.北京:科学出版社,2007:201-202.
[6] 黄选兆,汪吉宝,种乃川,等.实用耳鼻咽喉科学[M].北京:人民卫生出版社,2005:985-999.
[7] The Connexin-deafness homepage.http://davinci.crg.es/deafness.2013,10:23-23.
[8] FORGE A,BEEKER D,CASALOTTI S,et al.Gap junction and eonnexin expression in the inner ear[J].Novartis Found Symp,1000,219:123-150.
[9] 纪育斌,兰兰,王大勇,等. 中国非综合征型聋患者GJB2基因突变流行病学文献荟萃分析[J]. 听力学及言语疾病杂志, 2011,19(4):323-327.
[10] KELLEY P M,HARRIS D J,COMERETAL B C.Novel mutations in the connexin 26 gene (GJB2) that cause antosomal reeessive (DFNB1) hearing loss[J]. Am J Hum Genet,1998,62:792-799.
[11] RABIONETR,ZELANTE L,LOPEZ-BIGAS N,et al.Molecular basis of childhood deafness resulting from mutations in the GJB2(eonnexin26) gene[J].Hum Genet,2000,106:40-44.
[12] KUDO T,IKEDA K,KURE S,et al. Novel mutations in the eonnexin26 gene (GJB2) responsible for childhood deafness in the Japanese population[J].Am J Med Genet,2000,90:41-145.
[13] 满荣军,郭玉芬,刘晓雯,等.新疆少数民族和汉族聋哑学生GJB2基因和线粒体DNA12SrRNA A1555G突变研究[J].中国耳鼻喉头外科,2009,16(4):190-193.
[14] 李庆忠, 王秋菊, 韩东一,等. GJB2基因突变始祖效应对中国耳聋人群的影响[J]. 解放军医学杂志, 2005, 30(5):394-396.
[15] 朱一鸣.中国西北地区非综合征型耳聋常见聋病基因突变图谱的绘制及分析[D].甘肃:兰州大学(甘肃),2010.
[16] 周黎红,郝子琪,刘薇拉,等.GJB2基因V27I和E114G位点与耳聋相关性的研究[J].中国优生与遗传杂志,2012,20(1):49-50.
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