摘要
目的:研究SLC26A4基因突变在中国湖南地区耳聋人群中的突变频率和突变热点。方法:采集来自湖南各地区的非综合征性聋患者的血液样本96例,PCR扩增后,应用变性高效液相色谱技术对SLC26A4基因的全部21个外显子19个片段进行筛查,对变性高效液相色谱筛查发现异常的PCR扩增样本进行测序。测序结果运用DNASTAR软件进行分析。结果:在15例患者中检测到了SLC26A4基因突变,检出率为15.6%,其中3例纯合突变,10例为复合杂合突变,2例杂合突变。共发现了16种不同类型的碱基变异,包括10种已知突变(S90L、S252P、IVS7-2A>G、T410M、N392Y、IVS10-12T>A、S448X、G497S、S517fs、H723R),4种新发突变(S8X、A227P、C565fs、Y728H),1种同义突变(c.2182 T>C)和1种多肽(IVS11+47 T>C)。在该研究中IVS7-2A>G突变最多,共检测到9例,检出率为9.38%,占所有突变等位基因的5.73%。最常见的多肽为IVS11+47T>C,共检测到20例。结论:在湖南地区非综合征性聋患者中IVS7-2A>G是SCL26A4基因最常见的突变方式;该研究所发现的4例新发突变在一定程度上丰富了中国人SLC26A4基因突变图谱。
Objective：To determinate the occurring frequency and mutational hot spot in Hunan province.Method：Blood samples was obtained from 96 patients with nonsydromic hearing impairment in Hunan province.PCR and DHPLC techniques were used to screening for all the 21exon of SLC26A4.PCR samples which were abnormal for DHPLC screening were analyzed with direct sequencing.Sequencing results were analyzed in DNASTAR software.Result：Fifteen of 96 patients were found to have SLC26A4 gene mutations,detection rate was 15.6%,for 3 examples were homozygous mutations,ten samples were complex heterozygous mutations and 2 were heterozygous mutations.Totally,sixteen base variations were found,including 10 types of known gene mutation were identified（S90L、S252P、IVS7-2AG、T410M、N392Y、IVS10-12TA、S448X、G497S、S517fs、H723R）,Four types of novel gene mutation（S8X、A227P、C565fs、Y728H）,one type of same sense mutation（c.2182 TC）and 1 type of polypeptide（IVS11＋47 TC）.IVS7-2AG was the most common gene mutation,which 9 samples were identified with,and it＇s detection rate was 9.38% and 5.73% for all the mutant alleles.IVS11＋47 TC was the most common polypeptide,which 20 samples were detected.Conclusion：IVS7-2AG was the most common gene mutation type for nonsyndromic hearing impairment in Hunan province;4 novel mutations which were detected in the study enriched SLC26A4 gene mutation spectrum of Chinese.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
CSCD
北大核心
2010年第13期587-591,共5页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
基金
国家863计划(No:2007AA02Z445)
国家自然科学基金(No:30470954
No:30671150
No:30971589)
"十一五"国家攻关计划(No:2007BA118B13)
高等学校博士学科点专项基金(No:20060533043)
