摘要
目的分析中国人非综合征性耳聋GJB2基因的突变频率和特性,并探讨其基因型与表型的关系。方法聚合酶链反应扩增目的片段,变性高效液相色谱进行突变筛查,阳性结果直接测序,对GJB2杂合突变病人进行△(GJB6-D13S1830)突变检测。结果DHPLC突变检测的敏感性和特异性均达到了100%。在255个非综合征性耳聋家系先证者中,共检测到14种GJB2变异,其中235delC是最常见的突变类型,占所有突变的75%。在115例正常人中79G>A和341A>G两种多态的等位基因频率分别为24.8%和20.9%。在12例GJB2杂合突变病人中未检测到△(GJB6-D13S1830)突变。结论GJB2突变是导致学语前聋的主要原因,28.6%的学语前隐性和18.9%学语前散发非综合征性耳聋病人携带了两个GJB2突变。在中国人群中,235delC是GJB2基因最常见的突变形式,而79G>A和341A>G是GJB2基因最常见的两种多态。
Objective To analyze the frequency and characteristics of GJB2 gene mutations in Chinese patients with nonsydromic hearing loss and ascertain correlations between genotype and phenotype. Methods Polymerase Chain Reaction （PCR） and denaturing high-performance liquid chromatography （DHPLC） were used to screen for GJB2 gene mutations, samples with abnormal DHPLC waveforms were directly sequenced to identify the variation. The Δ （GJB6- D13S1830） mutation was screened in the patients with a single GJB2 deafness-cansing mutation. Results The sensitivity and specificity of DHPLC for GJB2 mutation screening were both 100%. Among the 255 probands with nonsyndromic hearing loss, 14 GJB2 variants were detected; the 235 delC mutation was the most common, accounting for 75% of the pathogenic mutation detected. In the 115 control subjects the allele frequency of the two polymorphisms 79 G〉A and 341 A〉G were 24.8% and 20.9%, respectively. TheΔ（GJB6-D13S1830） mutation was not detected in 12 patients with GJB2 heterozygous mutation. Conclusion The mutations in GJB2 are the major cause of prdingual deafnesa; two causative mutations can be found in 28.6 % prelingual recessive and in 18.9 % prdingual sporadic NSHL patients. 235 delC is the most common mutation and the 79G〉A and 341A〉G are the two most common polymorphisms among Chinese population.
出处
《中国耳鼻咽喉颅底外科杂志》
CAS
2006年第4期241-247,共7页
Chinese Journal of Otorhinolaryngology-skull Base Surgery
基金
致残疾病的研究(973)(编号:2001CB510302)
十五攻关项目(编号:2004BA720A18-02)
