Int J Pediatr Otorhinolaryngol:中国西北地区听力损失患者中GJB2、GJB3、SLC26A4和MT-RNR1变异频率研究

2020-07-27 AlexYang MedSci原创

最近,有研究人员揭示了中国西北地区GJB2、GJB3、SLC26A4和MT-RNR1变异谱和频率情况,并调查了无常见变异听力损失患者的致病基因。

最近,有研究人员揭示了中国西北地区GJB2、GJB3、SLC26A4和MT-RNR1变异谱和频率情况,并调查了无常见变异听力损失患者的致病基因。

研究人员对398名不相关的重度到永久性听力损失的患者进行了GJB2、GJB3、SLC26A4和MT-RNR1变异分析;并在具有家族听力损失遗传家庭中挑选了10名渊源者(无上述4个基因的变异)进行了二代测序和共分离分析。研究发现,398名患者中,69名(17.34%)患者具有GJB2双等位基因变异,最常见的变异为c.235delC、c.109G>A和c.299_300delAT,等位基因频率分别为12.31%、3.38%和3.89%。另外,研究人员共检测到63例(15.83%)双等位SLC26A4变异,最常见的致病等位基因为c.919-2A>G、c.2168A>G和c.1174A>T,等位基因频率分别为9.17%、2.26%和0.88%。研究人员在9名(2.26%)患者检测到线粒体基因突变,其中5名为线粒体DNA(mtDNA)m.1555A>G突变,4名mtDNAm.1095T>C突变。在10名有明确家族遗传历史的HL患者中,NGS结果表明2个家族有2个新的致病变异,包括LOXHD1中的c.4129C>T/c.3268C>T,CDH23中的c.334G>A/c.2968G>T。Sanger测序证实了这些变异,且这些变异与HL发生分离。

最后,研究人员指出,他们的结果表明了GJB2和SLC26A4是中国西北地区HL的主要致病基因。GJB2中最常见的变异等位基因位点为c.235delC, c.109G>A和c.299_300delAT,SLC26A4中为c.919-2A>G, c.2168A>G和c.1174A>T。因此,这两个基因可以作为首次耳聋筛选的依据。NGS也是耳聋基因发掘的有力工具。

原始出处:

Xiao-Wen Liu , Jian-Chao Wang , Su-Yang Wang et al. The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. Int J Pediatr Otorhinolaryngol. 2020

 

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    2021-07-02 仁医06
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    2020-10-29 小刀医生
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    2020-11-16 feather89
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    2020-07-29 ysjykql
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