目的探讨STRC双等位基因变异导致非综合征型感音神经性听力损失的遗传学特点。方法以2022年5月就诊于甘肃省妇幼保健院的1例女性听力障碍患儿作为研究对象,采集患儿及父母外周血,抽提基因组DNA,用IDT The xGen Exome Research Panel v2....目的探讨STRC双等位基因变异导致非综合征型感音神经性听力损失的遗传学特点。方法以2022年5月就诊于甘肃省妇幼保健院的1例女性听力障碍患儿作为研究对象,采集患儿及父母外周血,抽提基因组DNA,用IDT The xGen Exome Research Panel v2.0全外显子(exon)捕获芯片捕获并测序,运用生物信息学及临床信息分析技术进行基因数据分析,对疑似致病变异用定量聚合酶链式反应(quantitative polymerase chain reaction,QPCR)和Sanger测序进行验证。结果患儿出生时听力初筛瞬态诱发耳声发射(TEOAE)双耳未通过,42 d以及4月龄听力复筛均未通过,1岁10个月时检测发现左右耳均为中度感音神经性听力损失,现3岁6个月,听力损失无加重。全外显子组测序检测显示患儿携带STRC基因exon 1-29del和c.4561(exon 24)_c.4562(exon 24)insC变异,分别遗传自母亲和父亲,后者为新变异。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)相关指南,分别判定为可能致病变异和致病变异。结论c.4561(exon 24)_c.4562(exon 24)insC变异的发现丰富了STRC基因致病变异谱,可为患儿听力损失的诊断和遗传咨询提供理论依据。展开更多
The behavior of square-tubed reinforced concrete (STRC) short columns subjected to axial compression was studied in detail with an accurate nonlinear finite element model (FEM) . Different width to thickness ratios (D...The behavior of square-tubed reinforced concrete (STRC) short columns subjected to axial compression was studied in detail with an accurate nonlinear finite element model (FEM) . Different width to thickness ratios (D/t = 50 150) of the steel tube and the compressive strength of concrete (C80 and C50) were adopted in this research. The axial load strength,steel tube strain and load-shortening response were determined from FEM and the analysis results from FEM were compared with those from experiment. The analysis and test results indicate that the concrete strength little affectes the confinement of the steel tube on the concrete. The transverse stress of the tube at the axial load point increases with the increment in the width to thickness ratio. Based on the results from FEM and experiment,a formula for the prediction of the axial load strength was proposed in this paper.展开更多
文摘目的探讨STRC双等位基因变异导致非综合征型感音神经性听力损失的遗传学特点。方法以2022年5月就诊于甘肃省妇幼保健院的1例女性听力障碍患儿作为研究对象,采集患儿及父母外周血,抽提基因组DNA,用IDT The xGen Exome Research Panel v2.0全外显子(exon)捕获芯片捕获并测序,运用生物信息学及临床信息分析技术进行基因数据分析,对疑似致病变异用定量聚合酶链式反应(quantitative polymerase chain reaction,QPCR)和Sanger测序进行验证。结果患儿出生时听力初筛瞬态诱发耳声发射(TEOAE)双耳未通过,42 d以及4月龄听力复筛均未通过,1岁10个月时检测发现左右耳均为中度感音神经性听力损失,现3岁6个月,听力损失无加重。全外显子组测序检测显示患儿携带STRC基因exon 1-29del和c.4561(exon 24)_c.4562(exon 24)insC变异,分别遗传自母亲和父亲,后者为新变异。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)相关指南,分别判定为可能致病变异和致病变异。结论c.4561(exon 24)_c.4562(exon 24)insC变异的发现丰富了STRC基因致病变异谱,可为患儿听力损失的诊断和遗传咨询提供理论依据。
基金Sponsored by the National Natural Science Foundation of China (Grant No. 50708027)the National Key Technology Research and Development Program of China (Grant No.2006BAJ01B02)
文摘The behavior of square-tubed reinforced concrete (STRC) short columns subjected to axial compression was studied in detail with an accurate nonlinear finite element model (FEM) . Different width to thickness ratios (D/t = 50 150) of the steel tube and the compressive strength of concrete (C80 and C50) were adopted in this research. The axial load strength,steel tube strain and load-shortening response were determined from FEM and the analysis results from FEM were compared with those from experiment. The analysis and test results indicate that the concrete strength little affectes the confinement of the steel tube on the concrete. The transverse stress of the tube at the axial load point increases with the increment in the width to thickness ratio. Based on the results from FEM and experiment,a formula for the prediction of the axial load strength was proposed in this paper.
