目的:探讨KCNQ4和GJB2基因多态性与职业噪声性听力损失的相关性。方法:采用1∶1配对病例对照研究,应用PCR和直接测序法,检测了103对噪声性听力损失工人与噪声暴露听力正常工人的KCNQ4 rs34287852和GJB2 rs3751385位点的基因型,分析目的...目的:探讨KCNQ4和GJB2基因多态性与职业噪声性听力损失的相关性。方法:采用1∶1配对病例对照研究,应用PCR和直接测序法,检测了103对噪声性听力损失工人与噪声暴露听力正常工人的KCNQ4 rs34287852和GJB2 rs3751385位点的基因型,分析目的SNP位点基因型与职业噪声性听力损失发生的关系。结果:KCNQ4 rs34287852位点T,G等位基因及各基因型在病例与对照组间的分布差异无统计学意义(P>0.05)。病例组GJB2 rs3751385位点C等位基因的频率明显高于对照组(P<0.05)。病例组CC突变基因型的频率也显著高于对照组(P<0.05),工人携带突变纯合CC基因型发生听力损失危险性为携带野生纯合型TT个体的2.78倍。结论:GJB2 r s3751385位点突变与噪声性听力损失存在相关性,GJB2 r s3751385 C C基因型可能是噪声性听力损失的易感基因型之一。展开更多
Acoustic communication is essential for anuran survival and reproduction, and masking background noise can affect the effective acoustic communication. The larger odorous frog(Odorrana graminea) inhabits noise montane...Acoustic communication is essential for anuran survival and reproduction, and masking background noise can affect the effective acoustic communication. The larger odorous frog(Odorrana graminea) inhabits noise montane streams, and it has shown an ultrasound communication adaptation. However, the molecular mechanism underlying their ultrasonic hearing adaptation remains unknown. To characterize and investigate the molecular characteristics and evolution of the high-frequency hearing-sensitive gene(KCNQ4) in O. graminea, termed as OgKCNQ4, the rapid amplification of cDNA ends(RACE) was performed to amplify the cDNA of OgKCNQ4. Different bioinformatics analyses were used to investigate the molecular characteristics. Multiple nucleotide and amino acid sequence alignment were conducted, and phylogenies were reconstructed under the maximum likelihood and Bayesian approaches. The full-length cDNA of OgKCNQ4 was 2065 bp, and the open reading frame(ORF) was 2046 bp encoding for a putative protein with 681 amino acids. The relative molecular weight of OgKCNQ4 was 76.453 kD and the putative PI was 9.69. Secondary structure prediction analyses suggested 42.29% alpha helixes and 43.76% random coils in OgKCNQ4. Gene homology and Phylogenetic analyses revealed the closest relationship between OgKCNQ4 and KCNQ4 of Nanorana parkeri with 96.9% similarity and 95.0% identity. We first determined the full-length cDNA of OgKCNQ4 and the results here could provide foundations for further study on the evolution of KCNQ4 and its relationship to ultrasonic communication in amphibians.展开更多
KCNQ4 gene mutation can lead to deafness non-syndromic autosomal dominant 2A,which is a type of autosomal dominant non-syndromic hearing loss.Deafness non-syndromic autosomal dominant 2A patients with KCNQ4 gene mutat...KCNQ4 gene mutation can lead to deafness non-syndromic autosomal dominant 2A,which is a type of autosomal dominant non-syndromic hearing loss.Deafness non-syndromic autosomal dominant 2A patients with KCNQ4 gene mutation usually present with symmetrical,delayed,progressive high-frequency-affected hearing loss,which eventually can involve all frequencies.In this article,we comprehensively reviewed the research on the role and function of KCNQ4 gene in genetic hearing loss.We discussed the pathological and physiological mechanisms of KCNQ4 gene and the related clinical phenotypes of KCNQ4 gene mutations.We also reviewed the latest developments in the treatment of KCNQ4 gene mutation-related genetic hearing loss,including selective potassium channel activation drugs and gene therapy.展开更多
文摘目的:探讨KCNQ4和GJB2基因多态性与职业噪声性听力损失的相关性。方法:采用1∶1配对病例对照研究,应用PCR和直接测序法,检测了103对噪声性听力损失工人与噪声暴露听力正常工人的KCNQ4 rs34287852和GJB2 rs3751385位点的基因型,分析目的SNP位点基因型与职业噪声性听力损失发生的关系。结果:KCNQ4 rs34287852位点T,G等位基因及各基因型在病例与对照组间的分布差异无统计学意义(P>0.05)。病例组GJB2 rs3751385位点C等位基因的频率明显高于对照组(P<0.05)。病例组CC突变基因型的频率也显著高于对照组(P<0.05),工人携带突变纯合CC基因型发生听力损失危险性为携带野生纯合型TT个体的2.78倍。结论:GJB2 r s3751385位点突变与噪声性听力损失存在相关性,GJB2 r s3751385 C C基因型可能是噪声性听力损失的易感基因型之一。
基金supported by the National Natural Science Foundation of China to ZC (Grants U1404306 and 31601848), XHC (Grant 31572245, 31372164 and 31872220)the Project funded by China Postdoctoral Science Foundation to ZC (2016M600580)+1 种基金the Excellent Young Scholars Fund of HNNU to ZC (YQ201706)the Young Backbone Teachers Fund of HNNU to ZC
文摘Acoustic communication is essential for anuran survival and reproduction, and masking background noise can affect the effective acoustic communication. The larger odorous frog(Odorrana graminea) inhabits noise montane streams, and it has shown an ultrasound communication adaptation. However, the molecular mechanism underlying their ultrasonic hearing adaptation remains unknown. To characterize and investigate the molecular characteristics and evolution of the high-frequency hearing-sensitive gene(KCNQ4) in O. graminea, termed as OgKCNQ4, the rapid amplification of cDNA ends(RACE) was performed to amplify the cDNA of OgKCNQ4. Different bioinformatics analyses were used to investigate the molecular characteristics. Multiple nucleotide and amino acid sequence alignment were conducted, and phylogenies were reconstructed under the maximum likelihood and Bayesian approaches. The full-length cDNA of OgKCNQ4 was 2065 bp, and the open reading frame(ORF) was 2046 bp encoding for a putative protein with 681 amino acids. The relative molecular weight of OgKCNQ4 was 76.453 kD and the putative PI was 9.69. Secondary structure prediction analyses suggested 42.29% alpha helixes and 43.76% random coils in OgKCNQ4. Gene homology and Phylogenetic analyses revealed the closest relationship between OgKCNQ4 and KCNQ4 of Nanorana parkeri with 96.9% similarity and 95.0% identity. We first determined the full-length cDNA of OgKCNQ4 and the results here could provide foundations for further study on the evolution of KCNQ4 and its relationship to ultrasonic communication in amphibians.
基金supported by the grants of the National Natural Science Foundation of China(Major Project No.81830028,Youths Program Nos.81900950 and 81900951).
文摘KCNQ4 gene mutation can lead to deafness non-syndromic autosomal dominant 2A,which is a type of autosomal dominant non-syndromic hearing loss.Deafness non-syndromic autosomal dominant 2A patients with KCNQ4 gene mutation usually present with symmetrical,delayed,progressive high-frequency-affected hearing loss,which eventually can involve all frequencies.In this article,we comprehensively reviewed the research on the role and function of KCNQ4 gene in genetic hearing loss.We discussed the pathological and physiological mechanisms of KCNQ4 gene and the related clinical phenotypes of KCNQ4 gene mutations.We also reviewed the latest developments in the treatment of KCNQ4 gene mutation-related genetic hearing loss,including selective potassium channel activation drugs and gene therapy.
