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USH2A基因变异耳聋患者临床特征分析 被引量:2
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作者 吴玉森 关静 +5 位作者 谢琳怡 熊芬 赵翠 兰兰 王大勇 王秋菊 《解放军医学院学报》 CAS 2019年第9期880-886,891,共8页
目的本研究对临床常见的USH2A基因变异耳聋患者的基因型及表型进行分析,为实施精准的遗传咨询和干预指导提供参考。方法对2015-2018年于解放军总医院耳鼻咽喉头颈外科就诊的547例感音神经性耳聋患者进行基因检测,筛选出USH2A基因变异耳... 目的本研究对临床常见的USH2A基因变异耳聋患者的基因型及表型进行分析,为实施精准的遗传咨询和干预指导提供参考。方法对2015-2018年于解放军总医院耳鼻咽喉头颈外科就诊的547例感音神经性耳聋患者进行基因检测,筛选出USH2A基因变异耳聋患者,对USH2A基因变异位点致病性及常见的USH2A基因变异图谱及特点进行分析。并对患者进行耳科学及听力学检查,分析听力损失程度和听力图类型,以及年龄与听力损失程度的相关性。结果共收集到10例USH2A基因变异耳聋患者,USH2A基因变异耳聋患者发现听力下降的中位年龄为6岁(7个月~13岁)。听力损失程度结果统计,轻度听力损失1例,中度听力损失1例,中重度听力损失6例,重度听力损失1例,极重度听力损失1例。部分患者听力损失程度随年龄进一步增加。听力损失表型结果:渐降型2例,平坦型3例,低频(125~500 Hz或125~1000 Hz)陡降,中高频(500~8000 Hz)平坦型5例。10例USH2A基因变异耳聋患者中共有22处变异,20个不同的USH2A基因变异位点,其中有10个位点为未曾被报道过的变异。其变异种类包括:3个剪切位点变异,c.5572+1G>A、c.14969-2A>G、c.15297+1G>A;3个移码突变,c.5548delT、c.62926296ATAAG>TA、c.7863delA;4个错义突变,c.T3364G、c.11279G>C、c.13876C>G、c.14225C>T。另外10个为报道过的变异,已知明确致病位点6个,分别为c.99100insT、c.187C>T、c.2797C>T、c.8559-2A>G、c.11156G>A、c.1510415105del。10例患者中2例携带USH2A c.99100insT位点,余变异位点均为1例。22处USH2A变异位点中,有3个位点位于2号外显子。结论本研究发现了中国耳聋患者较为常见的USH2A基因变异位点c.99100insT,较常见的USH2A基因变异耳聋患者听力损失程度为中重度,较常见的听力损失类型为低频陡降、中高频平坦型,为USH2A基因变异耳聋患者早期诊断及早期干预、精准的遗传咨询提供了临床证据。 展开更多
关键词 USH2A基因 听力学 基因型-表型特征
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Information schema constructs for instantiation and composition of system manifestation features
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作者 Shahab POURTALEBI Imre HORVATH 《Frontiers of Information Technology & Electronic Engineering》 SCIE EI CSCD 2017年第9期1396-1415,共20页
Complementing our previous publications, this paper presents the information schema constructs (ISCs) that underpin the programming of specific system manifestation feature (SMF) orientated information management ... Complementing our previous publications, this paper presents the information schema constructs (ISCs) that underpin the programming of specific system manifestation feature (SMF) orientated information management and composing system models. First, we briefly present (1) the general process of pre-embodiment design with SMFs, (2) the procedures of creating genotypes and phenotypes of SMFs, (3) the specific procedure of instantiation of phenotypes of SMFs, and (4) the procedure of system model management and processing. Then, the chunks of information needed for instantiation of phenotypes of SMFs are discussed, and the ISCs designed for instantiation presented. Afterwards, the information management aspects of system modeling are addressed. Methodologically, system modeling involves (1) placement of phenotypes of SMF in the modeling space, (2) combining them towards the desired architecture and operation, (3) assigning values to the parameters and checking the satisfac- tion of constraints, and (4) storing the system model in the SMFs-based warehouse database. The final objective of the reported research is to develop an SMFs-based toolbox to support modeling of cyber-physical systems (CPSs). 展开更多
关键词 System manifestation features (SMFs) Information schema constructs Database schemata SMF genotypes SMFphenotypes SMF instances Soft'ware tool box System-level design Cyber-physieal systems
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