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目的探讨GJB2、SLC26A4基因突变在中国西北地区非综合征型耳聋(nonsydromic hearing impair-ment,NSHI)患者中的突变频率及主要的突变方式。方法采集中国西北地区801例非综合征型耳聋患者血样,应用PCR技术扩增GJB2基因的编码区和SLC26A4基因第7、19外显子,PCR产物进行直接测序,运用DNAS-tar5.0或BioEdit软件进行测序结果分析。结果801例NSHI患者中共检测到125例发生GJB2基因突变,突变率为15.61%(125/801),其中双等位基因(纯合或复合杂合)突变率为8.99%(72/801),235delC约占所有突变的78.79%(156/198)。101人发生SLC26A4基因(P7、P19)IVS7-2A>G、H723R和T721M突变,突变率为12.61%(101/801),其中双等位基因突变率为5.12%(41/801)。结论在中国西北地区NSHI患者中,235delC是GJB2基因最常见的突变方式,IVS7-2A>G和H723R是SLC26A4基因主要的突变方式。
Objective To investigate the frequency of mutations in GJB2 and SLC26A4 mutations in patients with nonsydromic hearing impair ment (NSHI) in Northwest China and their major mutation patterns. Methods Blood samples were collected from 801 patients with non-syndromic deafness in northwestern China. PCR was used to amplify the coding region of GJB2 gene and exon 7 and 19 of SLC26A4 gene. The PCR products were directly sequenced and sequenced using DNAS-tar 5.0 or BioEdit Software sequencing results analysis. Results A total of 125 GGB2 mutations were detected in 801 patients with NSHI. The mutation rate was 15.61% (125/801). The mutation rate of the two alleles (homozygous or complex heterozygous) was 8.99% (72/801) 235delC accounted for about 78.79% of all mutations (156/198). The mutation rate of IVS7-2A> G, H723R and T721M in SLC26A4 gene (P7, P19) was 12.61% (101/801) in 101 human subjects. The mutation rate of the double allele was 5.12% (41/801). Conclusion 235delC is the most common mutation of GJB2 gene in NSHI patients in northwestern China. IVS7-2A> G and H723R are the major mutations in SLC26A4 gene.