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应用试剂盒配合PAGE银染法分析SLC26A4基因IVS7-2A>G突变 被引量：2

SLC26A4 IVS7-2 A>G mutation analyzed by testing kit combined with PAGE silver staining
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摘要 目的建立应用标准试剂盒和PAGE银染方法检测SLC26A4基因IVS7-2A>G突变的程序,探索大前庭水管综合症的快速筛查和诊断方法。方法采用SLC26A4基因IVS7-2A>G突变诊断试剂盒配合PAGE胶电泳银染法检测经直接测序法确定的SLC26A4基因IVS7-2位点正常者109例,IVS7-2A>G突变阳性者33例,并且和测序方法比较,验证此试剂盒配合PAGE银染法检测的有效性和准确性。结果SLC26A4基因IVS7-2A>G突变诊断试剂盒配合PAGE胶电泳银染法检测结果证实阳性33例,其中纯合22例,杂合11例,与测序结果完全吻合。结论SLC26A4基因IVS7-2A>G突变诊断试剂盒配合PAGE胶电泳银染法检测在分析SLC26A4基因IVS7-2A>G突变方面具有简单、价廉、结果直观的特点,适合在中国用于此突变的大规模筛查或预防性检查。 Objective To establish a new diagnostic method for SLC26A4 IVS7-2 A〉G mutation using testing kit with PAGE silver staining and to evaluate the feasibility of the method as a fast diagnostic technique for enlarged vestibular aqueduct syndrome. Methods One hundred and forty-two samples including 33 positive cases carrying IVST- 2 A〉G mutation were tested by SLC26A4 gene IVST-2A〉G mutation testing kit combined with PAGE silver staining and the results were compared with that of direct sequencing. Results Thirty-three samples including 22 homozygotes and 11 heterozygotes were found to carry the IVS7-2A〉G mutation by the method of the testing kit combined with PAGE silver staining. The results were all confirmed by sequence analysis. Conclusion The method of SLC26A4 gene IVST- 2A〉G mutation testing kit combined with PAGE silver staining were convenient, inexpensive, and feasible in China for large scale screening testing for this mutation.
作者 李琦 戴朴 黄德亮 金政策 康东洋 朱庆文 张昕
机构地区 解放军总医院耳鼻咽喉头颈外科 山东省威海市威海澳麦尔基因科技有限公司
出处 《中华耳科学杂志》 CSCD 2007年第2期182-185,共4页 Chinese Journal of Otology
关键词 SLC26A4基因 大前庭水管综合征 聚丙烯酰胺凝胶电泳 银染 SLC26A4 gene EVAS（enlarged vestibular aqueduct syndrome） Polyacrylamide gel eletrophoresis Silver staining
分类号 R764.43 [医药卫生—耳鼻咽喉科] R181.26 [医药卫生—流行病学]
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二级参考文献15

  • 1[1]Valvassori GE,Clemis JD.The large vestibular aqueduct syndrome.Laryngoscope,1978,88:723-728.
  • 2[2]Emmett JR.The large vestibular aqudect syndrome.Am J Otology,1985,6:387-415.
  • 3[5]Campbell C,Cucci RA,Prasad S,et al.Pendred Syndrome,DFNB4 and PDS /SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.Hum Mutat,2001,17:403-411.
  • 4[6]Scott DA,Wang R,Kreman TM,et al.Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).Hum Mol Genet,2000,9:1709-1715.
  • 5[7]Coyle B,Coffey R,Armour JA,et al.Pendred syndrome(goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.NatGenet,1996,12:421-423.
  • 6[8]Sheffield VC,Kraiem Z,Beck JC,et al.Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.Nat Genet,1996,12:424-426.
  • 7[9]Everett LA,Glaser B,Beck JC,et al.Pendred syndrome is caused by mutations in a putative sulphate transporter gene(PDS).NatGenet,1997,17:411-422.
  • 8[10]Coucke P J,Van Hauwe P,Everett LA,et al.Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.J Med Genet,1999,36:475-477.
  • 9[11]Coyle B,Reardon W,Herbrick JA,et al.Molecular analysis of the PDS gene in Pendred syndrome.Hum Mol Genet,1998,7:1105-1112.
  • 10[13]Liu XZ,Pandya A,Angeli S,et al.Audiological features of GJB2 (connexin 26) deafness.Ear Hear,2005,26:361-369.

共引文献90

同被引文献30

  • 1戴朴,朱秀辉,袁永一,朱庆文,滕国春,张昕,刘丽贤,王嘉陵,冯勃,翟所强,康东洋,刘新,黄德亮.Pendred综合征基因热点突变筛查赤峰市聋哑学校大前庭水管综合征患者[J].中华耳鼻咽喉头颈外科杂志,2006,41(7):497-500. 被引量：58
  • 2戴朴,韩东一,冯勃,康东洋,刘新,袁慧军,曹菊阳,张昕,翟所强,杨伟炎,吴柏林.大前庭水管综合征的基因诊断和SLC26A4基因突变分析[J].中国耳鼻咽喉头颈外科,2006,13(5):303-307. 被引量：77
  • 3HU H,WU L Q,FENG Y,et al.Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese:a unique SLC26A4 mutation spectrum[J].J Hum Genet,2007,52:492-497.
  • 4USAMI S,ABE S,WESTON M D,et al.Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by SLC26A4 mutations[J].Hum Genet,1999,104:188-192.
  • 5PRASAD S,KOLLN K A,CUCCI R A,et al.Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatograph and the identification of eleven novel mutations[J].Am J Med Genet,2004,124A:1-9.
  • 6CAMPBELL C,CUCCI R A,PRASAD S,et al.Pendred syndrome,DFNB4,and PDS/SLC26A4 identification of eight novel mutation and possible genotype-phenotype correlations[J].Hum Mutat,2001,17:403-411.
  • 7FUGAZZOLA L,CERUTTI N,MANNAVOLA D,et al.Differential diagnosis between pendred and pseudo-pendred syndromes:clinical,radiologic and molecular studies[J].Pediatric Res,2002,51:479-484.
  • 8TSUKAMOTO K,SUZUKI H,HARADA D,et al.Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and non syndromic hearing loss associated with enlarged vestibular aqueduct:a unique spectrum of mutations in Japanese[J].Eur J Hum Genet,2003,11:916-922.
  • 9PARK 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.
  • 10YANG J J,TSAI C,HSU H,et al.Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the SLC26A4 gene[J].Hear Res,2005,199:22-30.

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二级引证文献40

中华耳科学杂志
2007年 第2期

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