目的建立角蛋白I型细胞骨架10[keratin type I cytoskeletal 10,KRT10)和VI型胶原蛋白A3[collagen alpha-3(VI)chain,COL6A3]短肽抗体的ELISA检测方法,并探讨两种瓜氨酸化短肽抗体在类风湿关节炎(rheumatoid arthritis,RA)实验室诊断中...目的建立角蛋白I型细胞骨架10[keratin type I cytoskeletal 10,KRT10)和VI型胶原蛋白A3[collagen alpha-3(VI)chain,COL6A3]短肽抗体的ELISA检测方法,并探讨两种瓜氨酸化短肽抗体在类风湿关节炎(rheumatoid arthritis,RA)实验室诊断中的价值。方法以合成短肽为包被抗原,抗人IgA,IgG及IgM为二抗,检测100例抗瓜氨酸化蛋白抗体(anti-citrullinated protein antibodies,ACPA)阳性组、100例健康对照组和29例RA确诊患者血清中的KRT10,KRT10_C,COL6A3及COL6A3_C短肽抗体水平,比较不同短肽抗体与RA的相关性,采用ROC曲线分析KRT10_C和COL6A3_C短肽抗体对于RA的诊断价值,并对此ELISA方法进行精密度评价。结果与临床诊断相比,KRT10_C短肽抗体诊断RA的灵敏度为58.62%,特异度为52.17%,用于诊断抗CCP抗体阳性RA患者的ROC曲线下面积达0.895;COL6A3_C短肽抗体诊断RA的灵敏度为65.52%,特异度为78.95%,用于诊断抗CCP抗体阴性的RA患者的ROC曲线下面积可达0.956。ELISA检测值KRT10_C(以抗人IgG为二抗)的批内变异系数分别为11.2%(低值)、7.8%(中值)和6.7%(高值)。ELISA检测COL6A3_C(以抗人IgM为二抗)的批内变异系数分别为12.9%(低值)、8.4%(中值)和8.9%(高值)。结论KRT10_C和COL6A3_C短肽抗体对RA诊断具有重要意义,有望加入并完善实验室诊断体系,提高RA的早期诊断率。展开更多
BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proxim...BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proximal joint contracture,distal joint hyperlaxity,and progressive respiratory failure.There is currently no cure for UCMD.Here,we report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with UCMD.CASE SUMMARY A 3-year-old boy,his 4-year-old brother,their parents,and a 20-wk-old fetus in the mother’s womb were included in the study.The brothers had the typical manifestations of the early-severe subtype:A delayed motor milestone(never walking independently),torticollis,scoliosis,proximal joint contracture,distal joint hyperextension,right hip joint dislocation,and calcaneal protuberance.Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the COL6A2 gene(c.1353_c.1354insC,p.Arg453Profs-Ter42/c.2105G>A,p.Trp702Ter).The absence of collagen VI staining in the younger brother’s muscle was identified accurately.Genetic counseling and prenatal diagnosis were crucial for the family,as the autosomal recessive genetic disease affected a quarter of the patient’s siblings.The fetus of the mother’s third child underwent prenatal diagnosis and carried the same two mutations of COL6A2,confirmed in the amniotic fluid by multiplex ligation-dependent probe amplification and short tandem repeats.After a painful psychological struggle,the parents finally decided to terminate the pregnancy.CONCLUSION We report a Chinese family suffering from UCMD.By clarifying the COL6A2 mutations in the probands,the parents had the opportunity to opt for voluntary interruption of the third UCMD pregnancy.展开更多
Magnetic entropy change （△SM） and refrigerant capacity （RC） of Ce6Ni2Si3-type Gd6Co1.67Si2.5Geo.5 compounds have been investigated. The Gd6Col.67Si2.5Geo.5 undergoes a reversible second-order phase transition at ...Magnetic entropy change （△SM） and refrigerant capacity （RC） of Ce6Ni2Si3-type Gd6Co1.67Si2.5Geo.5 compounds have been investigated. The Gd6Col.67Si2.5Geo.5 undergoes a reversible second-order phase transition at the Curie temperature Tc = 296 K. The high saturation magnetization leads to a large ASM and the maximal value of △SM is found to be 5.9 J/kg. K around TC for a field change of 0-5 T. A broad distribution of the △SM peak is observed and the full width at half maximum of the △SM peak is about 101 K under a magnetic field of 5 T. The large RC is found around TC and its value is 424 J/kg.展开更多
文摘目的建立角蛋白I型细胞骨架10[keratin type I cytoskeletal 10,KRT10)和VI型胶原蛋白A3[collagen alpha-3(VI)chain,COL6A3]短肽抗体的ELISA检测方法,并探讨两种瓜氨酸化短肽抗体在类风湿关节炎(rheumatoid arthritis,RA)实验室诊断中的价值。方法以合成短肽为包被抗原,抗人IgA,IgG及IgM为二抗,检测100例抗瓜氨酸化蛋白抗体(anti-citrullinated protein antibodies,ACPA)阳性组、100例健康对照组和29例RA确诊患者血清中的KRT10,KRT10_C,COL6A3及COL6A3_C短肽抗体水平,比较不同短肽抗体与RA的相关性,采用ROC曲线分析KRT10_C和COL6A3_C短肽抗体对于RA的诊断价值,并对此ELISA方法进行精密度评价。结果与临床诊断相比,KRT10_C短肽抗体诊断RA的灵敏度为58.62%,特异度为52.17%,用于诊断抗CCP抗体阳性RA患者的ROC曲线下面积达0.895;COL6A3_C短肽抗体诊断RA的灵敏度为65.52%,特异度为78.95%,用于诊断抗CCP抗体阴性的RA患者的ROC曲线下面积可达0.956。ELISA检测值KRT10_C(以抗人IgG为二抗)的批内变异系数分别为11.2%(低值)、7.8%(中值)和6.7%(高值)。ELISA检测COL6A3_C(以抗人IgM为二抗)的批内变异系数分别为12.9%(低值)、8.4%(中值)和8.9%(高值)。结论KRT10_C和COL6A3_C短肽抗体对RA诊断具有重要意义,有望加入并完善实验室诊断体系,提高RA的早期诊断率。
基金the Research Project of Joint Funds for the Innovation of Science and Technology,Fujian Province,No.2018Y9029.
文摘BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proximal joint contracture,distal joint hyperlaxity,and progressive respiratory failure.There is currently no cure for UCMD.Here,we report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with UCMD.CASE SUMMARY A 3-year-old boy,his 4-year-old brother,their parents,and a 20-wk-old fetus in the mother’s womb were included in the study.The brothers had the typical manifestations of the early-severe subtype:A delayed motor milestone(never walking independently),torticollis,scoliosis,proximal joint contracture,distal joint hyperextension,right hip joint dislocation,and calcaneal protuberance.Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the COL6A2 gene(c.1353_c.1354insC,p.Arg453Profs-Ter42/c.2105G>A,p.Trp702Ter).The absence of collagen VI staining in the younger brother’s muscle was identified accurately.Genetic counseling and prenatal diagnosis were crucial for the family,as the autosomal recessive genetic disease affected a quarter of the patient’s siblings.The fetus of the mother’s third child underwent prenatal diagnosis and carried the same two mutations of COL6A2,confirmed in the amniotic fluid by multiplex ligation-dependent probe amplification and short tandem repeats.After a painful psychological struggle,the parents finally decided to terminate the pregnancy.CONCLUSION We report a Chinese family suffering from UCMD.By clarifying the COL6A2 mutations in the probands,the parents had the opportunity to opt for voluntary interruption of the third UCMD pregnancy.
基金Project supported by the National Natural Science Foundation of China （Grant Nos. 11004204 and 51001114）, the Knowledge Inno- vation Project of the Chinese Academy of Sciences, and the National Basic Research Program of China （Grant No. 2006CB601101）.
文摘Magnetic entropy change （△SM） and refrigerant capacity （RC） of Ce6Ni2Si3-type Gd6Co1.67Si2.5Geo.5 compounds have been investigated. The Gd6Col.67Si2.5Geo.5 undergoes a reversible second-order phase transition at the Curie temperature Tc = 296 K. The high saturation magnetization leads to a large ASM and the maximal value of △SM is found to be 5.9 J/kg. K around TC for a field change of 0-5 T. A broad distribution of the △SM peak is observed and the full width at half maximum of the △SM peak is about 101 K under a magnetic field of 5 T. The large RC is found around TC and its value is 424 J/kg.
