Background Congenital cataract is a sight-threatening disease that affects about 1-6 cases per 10000 live births and causes 10%-30% of all blindness in children About 25% of all cases are due to genetic defects...Background Congenital cataract is a sight-threatening disease that affects about 1-6 cases per 10000 live births and causes 10%-30% of all blindness in children About 25% of all cases are due to genetic defects We identified autosomal dominant congenital coralliform cataracts-related genetic defect in a four-generation Chinese family Methods Complete ophthalmological examinations were performed prior to lens extraction Lens samples were then studied by electron microscopy Genomic DNA from family members were examined using whole-genomic linkage analysis, with two-point logarithm of odds (LOD) scores calculated using the Linkage program package (version 5 1) Mutation analysis of candidate genes was performed by direct sequencing Finally, a three-dimensional protein model was predicted using Swiss-Model (version 2 0) Results Eleven of the 23 examined individuals had congenital cataracts Ultrastructure studies revealed crystal deposits in the lens, and granules extensively dispersed in transformed lens fiber cells The maximum two-point LOD score, 3 5 at θ=0 1, was obtained for the marker D2S325 Mutation analysis of the γ-crystallin (CRYG) gene cluster identified a mutation (P23T) in exon 2 of γD-crystallin (CRYGD) Protein structure modeling demonstrated that the P23T mutation caused a subtle change on the surface of the γD protein Conclusions The results suggest that the coralliform cataract phenotype is due to a mutated CRYGD gene, and that this sequence change is identical to one reported by Santhiya to be related to another distinct clinical condition, lamellar cataract This study provides evidence that this same genetic defect may be associated with a different phenotype This is the first report identifying the genetic defect associated with an autosomal dominant congenital coralliform cataract展开更多
目的探讨在原发性肺癌患者血清中相关肿瘤标志物表达水平的变化及临床意义。方法采用化学发光法检测972例样本血清,包括104例肺癌、129例肺良性疾病和739例健康对照中5种肿瘤标志物:癌抗原125(CA125)、神经原特异性烯醇化酶(Neuron Spec...目的探讨在原发性肺癌患者血清中相关肿瘤标志物表达水平的变化及临床意义。方法采用化学发光法检测972例样本血清,包括104例肺癌、129例肺良性疾病和739例健康对照中5种肿瘤标志物:癌抗原125(CA125)、神经原特异性烯醇化酶(Neuron Specific Enolase,NSE)、细胞角蛋白19片段(Cytokeratin-19-fragment CY211)、鳞状细胞癌抗原(SCC)、癌胚抗原(CEA)的表达水平。结果肺癌组及肺良性疾病组肿瘤标志物水平高于健康对照组(P<0.05),肺癌组CEA和CY211水平高于肺良性疾病组(P<0.05),但其他三项无差异。结合病理分析,在小细胞癌中NSE阳性率水平最高,在腺癌中CA125阳性率水平最高,在鳞癌中CY211阳性率水平最高。结论血清CEA和CY211水平在肺癌的诊断中的意义要优于其他标志物,且不同的肿瘤标志物升高对不同的病理分型有一定帮助。展开更多
文摘Background Congenital cataract is a sight-threatening disease that affects about 1-6 cases per 10000 live births and causes 10%-30% of all blindness in children About 25% of all cases are due to genetic defects We identified autosomal dominant congenital coralliform cataracts-related genetic defect in a four-generation Chinese family Methods Complete ophthalmological examinations were performed prior to lens extraction Lens samples were then studied by electron microscopy Genomic DNA from family members were examined using whole-genomic linkage analysis, with two-point logarithm of odds (LOD) scores calculated using the Linkage program package (version 5 1) Mutation analysis of candidate genes was performed by direct sequencing Finally, a three-dimensional protein model was predicted using Swiss-Model (version 2 0) Results Eleven of the 23 examined individuals had congenital cataracts Ultrastructure studies revealed crystal deposits in the lens, and granules extensively dispersed in transformed lens fiber cells The maximum two-point LOD score, 3 5 at θ=0 1, was obtained for the marker D2S325 Mutation analysis of the γ-crystallin (CRYG) gene cluster identified a mutation (P23T) in exon 2 of γD-crystallin (CRYGD) Protein structure modeling demonstrated that the P23T mutation caused a subtle change on the surface of the γD protein Conclusions The results suggest that the coralliform cataract phenotype is due to a mutated CRYGD gene, and that this sequence change is identical to one reported by Santhiya to be related to another distinct clinical condition, lamellar cataract This study provides evidence that this same genetic defect may be associated with a different phenotype This is the first report identifying the genetic defect associated with an autosomal dominant congenital coralliform cataract
文摘目的探讨在原发性肺癌患者血清中相关肿瘤标志物表达水平的变化及临床意义。方法采用化学发光法检测972例样本血清,包括104例肺癌、129例肺良性疾病和739例健康对照中5种肿瘤标志物:癌抗原125(CA125)、神经原特异性烯醇化酶(Neuron Specific Enolase,NSE)、细胞角蛋白19片段(Cytokeratin-19-fragment CY211)、鳞状细胞癌抗原(SCC)、癌胚抗原(CEA)的表达水平。结果肺癌组及肺良性疾病组肿瘤标志物水平高于健康对照组(P<0.05),肺癌组CEA和CY211水平高于肺良性疾病组(P<0.05),但其他三项无差异。结合病理分析,在小细胞癌中NSE阳性率水平最高,在腺癌中CA125阳性率水平最高,在鳞癌中CY211阳性率水平最高。结论血清CEA和CY211水平在肺癌的诊断中的意义要优于其他标志物,且不同的肿瘤标志物升高对不同的病理分型有一定帮助。
