非综合征性语前聋人群中α-盖膜蛋白基因突变检测

α-Tectorin Mutation Screening in Prelingual Nonsyndromic Hearing Impairment Patients

目的 探讨中国人非综合征性语前聋患者α -盖膜蛋白基因突变频率和特性。方法 收集非综合征性语前聋家系 34个 ,大部分来自湖南地区 ,共计 6 5例 ,散发患者 31例 ,健康对照组 10 0例。聚合酶链反应扩增α -盖膜蛋白基因的部分外显子 ,单链构象多态分析初筛可疑突变者 ,发现异常构象带后再行DNA测序。结果 在α-盖膜蛋白基因 9号和 18号外显子的SSCP检测中发现多个患者有异常构象带 ,测序证实为多态性改变。未发现导致非综合征性语前聋的突变。结论 目前在国人非综合征性语前聋患者中尚未检测到α -盖膜蛋白基因的致聋突变 。

Objective To ascertain the frequency and characteristics of deafness causing mutations in α-tectorin gene in Chinese with prelingual nonsyndromic hearing impairment.Methods Most of the cases were collected within Hunan province, including 31 sporadic congenital deaf patients and 65 patients from 34 hereditary prelingually deafness families, and 100 health individuals were used as control. Genomic DNA was extracted from the cases and subjected to the PCR to amplify selected exons of α-tectorin gene, then the amplified products were screened for base variations by single strand conformational polymorphismanalysis (SSCP). The bands with abnormal conformation were sequenced to confirm the mutation.Results 3 types of base substitution were detected at nucleotide in exon 9 and 18. One of them was missense mutation; the other two did not change the amino acid sequence. We considered these variants as non-consequential polymorphism. We did not find that the cases with α-tectorin gene mutation were connected with prelingual nonsyndromic hearing impairment.Conclusion We have not detected any deafness causing mutation in α-tectorin gene in Chinese patients with prelingual nonsyndromic hearing impairment. The other exons of α-tectorin should be studied in our further research.