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目的研究闽南地区先天性听力障碍儿童常见耳聋基因GJB2和SLC26A4的突变频率、突变类型及这些突变与耳聋的相关性,明确该地区的热点突变情况。方法对厦门市妇幼保健院耳鼻喉科89例非综合征性耳聋患儿进行听力学评估、专科检查及问卷调查,采集其外周血并提取DNA用二代测序法进行遗传性耳聋基因GJB2和SLC26A4全部外显子区域的测序,总结检测到的各种基因突变类型。结果 GJB2基因和SLC26A4基因阳性检出率为46.07%,其中阳性确诊病例24.72%,疑似病例21.35%;GJB2基因阳性检出率高达33.71%,SLC26A4基因阳性检出率为11.24%。结论本次实验表明对听力障碍儿童进行常见的耳聋基因GJB2和SLC26A4的筛查有较高的检出率,并且部分患儿能从分子水平进行诊断。进行常见耳聋基因的检查可以今早的发现遗传性耳聋患者,对防聋、控聋起到一定的指导意义。
Objective To investigate the frequency of mutations, the type of mutations in GJB2 and SLC26A4 in children with congenital hearing impairment in southern Fujian and the correlation between these mutations and deafness, and to identify the hot spot mutation in this area. Methods 89 cases of nonsyndromic deaf children with otorhinolaryngology in Xiamen MCH hospital were subjected to audiological examination, specialist examination and questionnaire survey. The peripheral blood was collected and DNA was extracted. The second-generation sequencing methods were used to detect the genetic deafness genes GJB2 and SLC26A4 All exon regions were sequenced and the types of mutations detected were summarized. Results The positive rate of GJB2 gene and SLC26A4 gene was 46.07%, of which 24.72% were confirmed positive cases and 21.35% were suspected cases. The positive rate of GJB2 gene was 33.71% and the positive rate of SLC26A4 gene was 11.24%. Conclusions This experiment shows that the detection rate of common deafness genes GJB2 and SLC26A4 in children with hearing impairment is high, and some children can be diagnosed at the molecular level. The common deafness gene can be found in this morning, hereditary deafness, deafness, deafness play a guiding role.