目的运用Meta分析的方法评价CDH23基因rs1227049、rs1227051、rs3802711和Exon7多态性与噪声性听力损失(noise-induced hearing lose,NIHL)的相关性。方法检索PubMed、Embase、Web of Science、中国知网、维普、万方数据库,收集有关CDH2...目的运用Meta分析的方法评价CDH23基因rs1227049、rs1227051、rs3802711和Exon7多态性与噪声性听力损失(noise-induced hearing lose,NIHL)的相关性。方法检索PubMed、Embase、Web of Science、中国知网、维普、万方数据库,收集有关CDH23基因rs1227049、rs1227051、rs3802711和Exon7多态性与NIHL相关性的研究,检索时限均为建库至2020年5月13日,采用RevMan5.3软件进行Meta分析。结果共纳入6篇病例对照研究,病例组合计798例,对照组1112例。Meta分析结果表明,CDH23-rs3802711多态性与NIHL具有相关性(等位基因模型:OR=0.75,95%CI:0.55~1.01,P=0.06;显性模型:OR=1.08,95%CI:1.38,P=0.52;隐性模型:OR=2.94,95%CI:1.12~7.71,P=0.03;加性基因模型:OR=2.24,95%CI:0.97~5.14,P=0.06);CDH23-Exon7多态性与NIHL具有相关性(等位基因模型:OR=3.38,95%CI:1.84~6.22,P<0.01;显性模型:OR=1.77,95%CI:0.79~3.97,P=0.17;隐性模型:OR=9.59,95%CI:28.20,P<0.01;加性基因模型:OR=6.95,95%CI:2.86~16.86,P<0.01);CDH23-rs1227049和rs1227051多态性与NIHL无相关性(P>0.05)。结论CDH23-rs380271和Exon7多态性与NIHL的发病风险有显著相关性,但未发现rs1227049和rs1227051多态性与NIHL易感性有关。展开更多
Objective:To predict the protein similarity, biological function and structure of 116 kDa protein that was isolated from human sperm membrane of acrosome by usingin silico. Methods:Predictions for 116 kDa protein simi...Objective:To predict the protein similarity, biological function and structure of 116 kDa protein that was isolated from human sperm membrane of acrosome by usingin silico. Methods:Predictions for 116 kDa protein similarity was done through comparative analysis of its isoelectric point (pI) and molecular weight to the UniProtKB/TrEMBL protein database. The three-dimensional structure of the protein was built using SWISS-MODEL.Results:The 116 kDa protein with pI 4.4 was expected to have similarities with CDH23 proteins that had pI 4.38, thus they likely had similar physical and biochemical properties. The predicted protein had an extracellular N-terminal that likely acted as a receptor, and showed cell recognition characteristic, playing a role in fertilization.Conclusions:The 116 kDa protein isolated from acrosome membrane has similarity on its biophysical character to the CDH23.展开更多
目的探讨Usher综合征1型(Usher syndrome type 1,USH1)相关基因在136例中国河南籍耳聋家庭中的变异情况。方法总结2016年11月至2019年12月在郑州大学第一附属医院遗传与产前诊断中心应用二代测序(next-generation sequencing,NGS)技术...目的探讨Usher综合征1型(Usher syndrome type 1,USH1)相关基因在136例中国河南籍耳聋家庭中的变异情况。方法总结2016年11月至2019年12月在郑州大学第一附属医院遗传与产前诊断中心应用二代测序(next-generation sequencing,NGS)技术进行耳聋基因检测的136个耳聋家庭的临床资料和测序数据,统计分析USH1相关基因(MYO7A、USH1C、CDH23、PCDH15、USH1G、CIB2)的变异情况。结果共有5个耳聋家庭检测到USH1相关基因的9个致病或可能致病变异,占所有耳聋家庭的3.7%(5/136),其中4个耳聋家庭致病基因为MYO7A,1个耳聋家庭致病基因为CDH23,9个变异中的7个变异为首次报道,包括MYO7A基因的c.313delG、c.5257dupA、c.5435A>T、c.5636G>C、c.5722T>G变异,以及CDH23基因的c.155166del、c.4802delA变异。其中家庭2和家庭3的患者视力目前无异常,但根据基因诊断及行走延迟考虑为USH1的可能性大。结论在本组河南籍耳聋患者中,MYO7A为USH1相关基因中最常见的致病基因。应用NGS技术可以在视觉症状出现之前对USH1患者进行初步诊断。展开更多
文摘目的运用Meta分析的方法评价CDH23基因rs1227049、rs1227051、rs3802711和Exon7多态性与噪声性听力损失(noise-induced hearing lose,NIHL)的相关性。方法检索PubMed、Embase、Web of Science、中国知网、维普、万方数据库,收集有关CDH23基因rs1227049、rs1227051、rs3802711和Exon7多态性与NIHL相关性的研究,检索时限均为建库至2020年5月13日,采用RevMan5.3软件进行Meta分析。结果共纳入6篇病例对照研究,病例组合计798例,对照组1112例。Meta分析结果表明,CDH23-rs3802711多态性与NIHL具有相关性(等位基因模型:OR=0.75,95%CI:0.55~1.01,P=0.06;显性模型:OR=1.08,95%CI:1.38,P=0.52;隐性模型:OR=2.94,95%CI:1.12~7.71,P=0.03;加性基因模型:OR=2.24,95%CI:0.97~5.14,P=0.06);CDH23-Exon7多态性与NIHL具有相关性(等位基因模型:OR=3.38,95%CI:1.84~6.22,P<0.01;显性模型:OR=1.77,95%CI:0.79~3.97,P=0.17;隐性模型:OR=9.59,95%CI:28.20,P<0.01;加性基因模型:OR=6.95,95%CI:2.86~16.86,P<0.01);CDH23-rs1227049和rs1227051多态性与NIHL无相关性(P>0.05)。结论CDH23-rs380271和Exon7多态性与NIHL的发病风险有显著相关性,但未发现rs1227049和rs1227051多态性与NIHL易感性有关。
文摘Objective:To predict the protein similarity, biological function and structure of 116 kDa protein that was isolated from human sperm membrane of acrosome by usingin silico. Methods:Predictions for 116 kDa protein similarity was done through comparative analysis of its isoelectric point (pI) and molecular weight to the UniProtKB/TrEMBL protein database. The three-dimensional structure of the protein was built using SWISS-MODEL.Results:The 116 kDa protein with pI 4.4 was expected to have similarities with CDH23 proteins that had pI 4.38, thus they likely had similar physical and biochemical properties. The predicted protein had an extracellular N-terminal that likely acted as a receptor, and showed cell recognition characteristic, playing a role in fertilization.Conclusions:The 116 kDa protein isolated from acrosome membrane has similarity on its biophysical character to the CDH23.
文摘目的探讨Usher综合征1型(Usher syndrome type 1,USH1)相关基因在136例中国河南籍耳聋家庭中的变异情况。方法总结2016年11月至2019年12月在郑州大学第一附属医院遗传与产前诊断中心应用二代测序(next-generation sequencing,NGS)技术进行耳聋基因检测的136个耳聋家庭的临床资料和测序数据,统计分析USH1相关基因(MYO7A、USH1C、CDH23、PCDH15、USH1G、CIB2)的变异情况。结果共有5个耳聋家庭检测到USH1相关基因的9个致病或可能致病变异,占所有耳聋家庭的3.7%(5/136),其中4个耳聋家庭致病基因为MYO7A,1个耳聋家庭致病基因为CDH23,9个变异中的7个变异为首次报道,包括MYO7A基因的c.313delG、c.5257dupA、c.5435A>T、c.5636G>C、c.5722T>G变异,以及CDH23基因的c.155166del、c.4802delA变异。其中家庭2和家庭3的患者视力目前无异常,但根据基因诊断及行走延迟考虑为USH1的可能性大。结论在本组河南籍耳聋患者中,MYO7A为USH1相关基因中最常见的致病基因。应用NGS技术可以在视觉症状出现之前对USH1患者进行初步诊断。
