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目的研究重点探讨在接受人工耳蜗植入的患者中,连接蛋白26基因(GJB2)突变发生的几率、突变形式。方法取115例中国人接受人工耳蜗植入的患者及健康对照109例。取外周血提取基因组DNA,经聚合酶链反应-单链构象多态(PCR-SSCP)及直接测序分析。结果36·5%(42/115)的人工耳蜗植入患者发现GJB2基因突变,其中41%(41/100)的非综合征型耳聋患者发现GJB2基因突变,内耳畸形组仅1例(1/15)。研究中共发现突变形式有11种,其中235delC是最常见的突变类型,等位基因频率占全部人工耳蜗植入患者的18·3%(42/230),占非综合征型耳聋组的21·0%(42/200)。187G>T和230G>A突变是首次发现的新突变。结论GJB2基因突变是中国人工耳蜗植入患者主要的致聋基因突变,235delC是其最常见的突变类型。
Objective To investigate the probability of occurrence and mutation of connexin 26 gene (GJB2) mutation in patients undergoing cochlear implants. Methods A total of 115 Chinese patients undergoing cochlear implantation and 109 healthy controls were included. Genomic DNA was extracted from peripheral blood and analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and direct sequencing. Results GJB2 gene mutation was found in 36.5% (42/115) of cochlear implants. GJB2 gene mutation was found in 41% (41/100) of nonsyndromic deafness patients and only 1 case (1 / 15). In the study, 11 types of mutations were found in the study, of which 235delC was the most common mutation type and the frequency of alleles was 18.3% (42/230) in all cochlear implants and 21% in nonsyndromic deafness patients 0% (42/200). 187G> T and 230G> A mutations were the first new mutations found. Conclusions GJB2 gene mutation is the major deafness gene mutation in Chinese cochlear implant patients. 235delC is the most common mutation.