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青岛地区270例非综合征性耳聋患者耳聋相关基因突变分析 被引量:6

Mutation analysis for deafness genes with the patients of NSHL 270 cases in Qingdao area
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摘要 目的分析青岛地区遗传性耳聋的基因突变位点。方法对270例非综合征性耳聋患者用基因芯片技术检测4个耳聋相关基因GJB2、GJB3、SLC26A4、线粒体DNA 12SrRNA的9个突变位点。结果 270例患者中检测出耳聋基因突变者113例(41.9%),GJB2基因突变71例(26.3%),SLC26A4基因突变37例(13.7%),GJB3基因突变1例(0.4%),线粒体12S rRNA基因突变4例(1.5%)。结论中国人常见的4个致聋基因突变在青岛地区耳聋人群中都有一定的检出率,GJB2基因235delC突变和SLC26A4基因IVS7-2 A>G突变是常见的突变方式。 Objective: To explore the genetic mutations of patients with nonsyndromic heating loss (NSHL) from Qingdao, Shandong province. Methods: Genomic DNA extracted from 270 patients with NSHL was subjected to allele-specific PCR and universal array to screen for hot spot mutations in the GJB2, GJB3. SLC26A4 and mtDNA 12S rRNA gene. Results: A total of 113 patients (41.9%) were found gene mutation in 9 sites of 4 genes. The mutation rates were 26.3%, 13.7%, 0.4% and 1.5% for GJB2, SLC26A4, GJB3 and 12S rRNA genes, respectively. Conclusion: The mutations of the four common deafness genes are all found in Qingdao population. The mutations of 235delC in GJB2 gene and IVST-2 A〉G in SLC26A4 gene are the most common.
出处 《中国优生与遗传杂志》 2014年第10期106-107,共2页 Chinese Journal of Birth Health & Heredity
关键词 非综合征型耳聋 基因 突变 基因芯片 Nonsyndromic hearing loss (NSHL) Gene Mutatiom Genechip
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