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目的 :Connexin2 6基因突变是引起常染色体隐性遗传 DFNB1和常染色体显性遗传 DFNA3的遗传基础 ,其中的 35 del G的突变在欧美人 DFNB1耳聋患者中的检出率为 70～ 80 % ,但在中国耳聋人群中未检到该点突变。本文旨在筛选中国人耳聋相关的 Connexin2 6基因的突变热点。方法 :采用 PCR- RFL P筛选 2 19例不同耳聋类型的患者和 5 0例听力正常人的 Connexin 2 6基因 2 33del C的突变 (2 1.5 % )。结果 :2 19例耳聋患者中共发现了 47例 Connexin 2 6基因2 33del C的突变 (2 1.5 % )。在先天性耳聋患者中 2 33del C的突变率为 33% ,遗传性语前聋患者为 2 6 .7%。 5 0例药物性致聋的患者有 10例发生突变。遗传性及散发性进行性感音神经性耳聋和听力正常人未检测到 2 33delc突变。结论 :Connexin2 6基因 2 33del C突变在中国先天性耳聋人群中发生频率较高 ,与欧美人不同。我们的结果表明 ,Connexin2 6基因异常导致耳聋的突变热点具有种族特异性
PURPOSE: Connexin2 6 gene mutation is the genetic basis of autosomal recessive DFNB1 and autosomal dominant DFNA3. The 35 del G mutation is detected in 70-80% of the patients with DFNB1 deafness in Europeans and Americans The deafness in China did not detect this point mutation. The aim of this study was to screen the hot spots of mutations in Connexin2 6 gene associated with deafness in Chinese. Methods: PCR-RFLP was used to screen 2133 cases of 2133del C (21.5%) mutations in Connexin 2 6 gene in 2 19 patients with different deafness types and 50 normal hearing persons. RESULTS: A total of 47 cases of 2133del C Connexin 2 6 gene mutations (21.5%) were found in 19 cases of deafness. The mutation rate of 33del C was 33% in patients with congenital deafness and 26.7% in patients with hereditary prelingual deafness. Fifty patients with drug-induced deafness had mutations in 10 patients. Hereditary and sporadic sexual sensory deafness and hearing normal persons did not detect 2 33delc mutations. Conclusion: The 2 33del C mutation of Connexin2 6 gene is highly frequent in Chinese population with congenital deafness, which is different from those in Europe and the United States. Our results show that the hotspots of mutations that cause abnormalities in the Connexin2 6 gene are denspecific