目的先天性无眼与小眼畸形(Anophthalmia and Microphthalmia,AM)为罕见的眼发育异常,可单侧或双侧发生,常合并囊肿、白内障和其他眼部异常。此外,患者常具有发育迟缓、肾脏或心脏缺陷、唇裂或腭裂等表现。本病病因复杂,可涉及染色体、...
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目的先天性无眼与小眼畸形(Anophthalmia and Microphthalmia,AM)为罕见的眼发育异常,可单侧或双侧发生,常合并囊肿、白内障和其他眼部异常。此外,患者常具有发育迟缓、肾脏或心脏缺陷、唇裂或腭裂等表现。本病病因复杂,可涉及染色体、单基因和环境因素等,确切的发病机制目前尚不清楚。近年来,PAX6、SOX2和OTX2等转录因子被确定为主要的致病基因。本研究对一先天性无眼与小眼畸形家系的上述基因进行了筛查,并探讨其在发病中的角色,为开展基因诊断奠定基础。方法采用试剂盒提取该家系中的患者外周血DNA,之后用PCR方法扩增其PAX6、SOX2和OTX2基因外显子并送测序。发现可疑变异位点后,用酶切法筛查其亲属及80例与该家系无关的正常人以验证结果,之后应用生物信息学软件预测突变蛋白结构。结果在该家系中患者的OTX2基因外显子中发现一新的杂合性突变,而先证者母亲和与该家系无关的80例正常人未发现突变。生物信息学工具预测出突变的OTX2蛋白与野生型蛋白结构差异很大,其下游DNA结构域可能被破坏,失去转录因子与DNA结合的功能。结论首次在一先天性无眼与小眼畸形家系中鉴定OTX2基因杂合性突变,并初步探讨了发病的分子机制。这将为以后的遗传咨询提供依据。
RNA editing by adenosine deamination fuels the generation of RNA and protein diversity in eukaryotes,particularly higher organisms. This includes recoding of translated exons, widespread editing of retrotransposon-der...
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RNA editing by adenosine deamination fuels the generation of RNA and protein diversity in eukaryotes,particularly higher organisms. This includes recoding of translated exons, widespread editing of retrotransposon-derived repeat elements and sequence modification of microRNA(miRNA) *** changes can bring about specific amino acid substitutions,alternative splicing and changes in gene expression *** overall
DNA sequencing technology is playing an increasingly important role in biological *** first generation of sequencing technology appeared in *** the past decade,the so-called next-generation sequencing technologies had...
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DNA sequencing technology is playing an increasingly important role in biological *** first generation of sequencing technology appeared in *** the past decade,the so-called next-generation sequencing technologies had emerged and caused a revolution in biological research.
The development of amniote ventricle will take three stages:the single ventricular chamber,the two incompletely septated ventricles and the completed septation of the heart into left and right *** suggested by latest ...
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The development of amniote ventricle will take three stages:the single ventricular chamber,the two incompletely septated ventricles and the completed septation of the heart into left and right *** suggested by latest studies,candidate genes like TBX5 are closely involved in the regulating mechanism of the amniote interventricular septum development,albeit that the molecular mechanism of single ventricle(SV) in human
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