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多聚丙氨酸延展突变与人类遗传病
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作者 赵秀丽 张学 《基础医学与临床》 CSCD 北大核心 2005年第11期986-991,共6页
三核苷酸重复的延展突变是导致遗传病的重要机制之一。根据产生机制和遗传特点的不同,可将其分为2类:一类是引起多种神经系统遗传病的动态突变;另一类就是本文重点介绍的多聚丙氨酸延展(polyalanine expan-sion,PAE)突变。PAE是指编码... 三核苷酸重复的延展突变是导致遗传病的重要机制之一。根据产生机制和遗传特点的不同,可将其分为2类:一类是引起多种神经系统遗传病的动态突变;另一类就是本文重点介绍的多聚丙氨酸延展(polyalanine expan-sion,PAE)突变。PAE是指编码多聚丙氨酸的不完全GCN(N为A、C、G或T中任意一种)三核苷酸重复的延展,其结果是蛋白中多聚丙氨酸链的氨基酸数增多。PAE突变能在世代间稳定传递,其产生机制可能为等位基因间的不等交换。迄今为止,已在9种遗传病中发现PAE突变。本文将对PAE突变及所致遗传病作一介绍。 展开更多
关键词 遗传病 突变 多聚丙氨酸延展 三核苷重复
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多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物的稳定性研究
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作者 宋依凝 张双庆 +3 位作者 李聃 何新华 仲伯华 张振清 《解放军药学学报》 CAS 2010年第5期389-392,共4页
目的建立测定紫杉醇含量的液相色谱-串联质谱联用方法,以此考察多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物在各种缓冲液和血浆中的稳定性。方法色谱条件:色谱柱:BetaBasicC18column(150mm×2.1mm,5μm),流动相:乙腈-水-甲酸(65:35:0.1),流... 目的建立测定紫杉醇含量的液相色谱-串联质谱联用方法,以此考察多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物在各种缓冲液和血浆中的稳定性。方法色谱条件:色谱柱:BetaBasicC18column(150mm×2.1mm,5μm),流动相:乙腈-水-甲酸(65:35:0.1),流速:0.2ml/min;质谱条件:电喷雾离子源,选择离子反应监测,正离子检测模式,前体药物-产物离子转换选择离子反应监测得出紫杉醇的质荷比m/z为854.2→286.1,内标多西紫杉醇的质荷比m/z为808.3→527.2。结果该检测方法的最低定量下限为0.5ng/ml,线性范围0.5~5000ng/ml,r=0.9980;多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物在醋酸盐缓冲液中的稳定性高于在磷酸盐中的稳定性,多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物在血浆中释放出紫杉醇的量明显高于其在醋酸盐和磷酸盐缓冲液中释放出紫杉醇的量。结论该方法特异性强、灵敏度高,成功应用于紫杉醇含量测定及多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物稳定性评价。 展开更多
关键词 紫杉醇 多聚(L-谷)--紫杉醇偶合物 稳定性 液相色谱-串联质谱联用
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Active changes of lignification-related enzymes in pepper response to Glomus intraradices and/or Phytophthora capsici 被引量:2
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作者 郑虎哲 崔春兰 +3 位作者 张玉廷 王丹 荆宇 KIM Kil Yong 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE EI CAS CSCD 2005年第8期778-786,共9页
The activities of enzymes responsible for lignification in pepper, pre-inoculation with arbuscular mycorrhizal (AM) fungus of Glomus intraradices and/or infection with pathogenic strain of Phytophthora capsici, and th... The activities of enzymes responsible for lignification in pepper, pre-inoculation with arbuscular mycorrhizal (AM) fungus of Glomus intraradices and/or infection with pathogenic strain of Phytophthora capsici, and the biological control effect of G. intraradices on Phytophthora blight in pepper were investigated. The experiment was carried out with four treatments: (1) plants pre-inoculated with G. intraradices (Gi), (2) plants pre-inoculated with G. intraradices and then infected with P. capsici (Gi+Pc), (3) plants infected with P. capsici (Pc), and (4) plants without any of the two microorganisms (C). Mycorrhizal coloni-zation rate was reduced by about 10% in pathogen challenged plants. Root mortality caused by infection of P. capsici was com-pletely eliminated by pre-inoculation with antagonistic G. intraradices. On the ninth day after pathogen infection, Peroxidase (POD) activity increased by 116.9% in Pc-treated roots but by only 21.2% in Gi+Pc-treated roots, compared with the control, respectively. Polyphenol oxidase (PPO) and Phenylalanine ammonia-lyase (PAL) activities gradually increased during the first 3 d and dramatically decreased in Pc-treated roots but slightly decreased in Gi+Pc-treated roots, respectively. On the ninth day after pathogen infection, PPO and PAL decreased by 62.8% and 73.9% in Pc-treated roots but by only 19.8% and 19.5% in Gi+Pc-treated roots, compared with the control, respectively. Three major POD isozymes (45 000, 53 000 and 114 000) were present in Pc-treated roots, while two major bands (53 000 and 114 000) and one minor band (45 000) were present in spectra of Gi+Pc-treated roots, the 45 000 POD isozyme was significantly suppressed by G. intraradices, suggesting that the 45 000 POD isozyme was induced by the pathogen infection but not induced by the antagonistic G. intraradices. A 60 000 PPO isozyme was induced in Pc-treated roots but not induced in Gi+Pc-treated roots. All these results showed the inoculation of antagonistic G. intraradices alleviates root mortality, activates changes of lignification-related enzymes and induces some of the isozymes in pepper plants infected by P. capsici. The results suggested that G. intraradices is a potentially effective protection agent against P. capsici. 展开更多
关键词 Arbuscular mycorrhizal (AM) fungus Glomus intraradices Phytophthora capsici Peroxidase (POD) Polyphenol oxidase (PPO) Phenylalanine ammonia-lyase (PAL)
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睑裂狭小综合征FOXL2基因突变及其临床表现 被引量:2
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作者 范佳燕 范先群 《中国实用眼科杂志》 CSCD 北大核心 2010年第2期102-104,共3页
目的睑裂狭小综合征是一种常染色体显性遗传性疾病。对睑裂狭小综合征进行基因定位和致病基因突变分析,发现FOXL2基因是首位致病基因。FOXL2基因不同的突变将引起两种不同的临床表现类型,其中Ⅰ型患者表现为眼睑畸形伴女性患者卵巢功... 目的睑裂狭小综合征是一种常染色体显性遗传性疾病。对睑裂狭小综合征进行基因定位和致病基因突变分析,发现FOXL2基因是首位致病基因。FOXL2基因不同的突变将引起两种不同的临床表现类型,其中Ⅰ型患者表现为眼睑畸形伴女性患者卵巢功能早衰和不育,男性患者生育功能正常;Ⅱ型患者仅有眼睑畸形,无生育功能障碍。 展开更多
关键词 睑裂狭小综合征(BPES) FOXL2 叉头状结构域 多聚丙氨酸 卵巢功能早衰
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LC-MS/MS法检测小鼠静注水溶性紫杉醇偶合物后血浆中的药物浓度 被引量:9
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作者 宋依凝 张双庆 +2 位作者 王晓英 仲伯华 张振清 《军事医学科学院院刊》 CSCD 北大核心 2010年第2期135-138,共4页
目的建立灵敏、特异的LC-MS/MS方法测定小鼠血浆中紫杉醇浓度,并应用于小鼠静注水溶性多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物的药物动力学研究。方法用甲基叔丁基醚提取小鼠血浆样品,以多西紫杉醇为内标,在BetaBasicC18色谱柱上以流动相乙... 目的建立灵敏、特异的LC-MS/MS方法测定小鼠血浆中紫杉醇浓度,并应用于小鼠静注水溶性多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物的药物动力学研究。方法用甲基叔丁基醚提取小鼠血浆样品,以多西紫杉醇为内标,在BetaBasicC18色谱柱上以流动相乙腈-水-甲酸(65∶35∶0.1,体积比)分离,流速为0.2ml/min;采用液相色谱-质谱-质谱联用仪,通过电喷雾离子化电离源,以选择反应监测方式进行正离子检测,用于定量分析的离子反应分别为m/z854.2→286.1(紫杉醇)和m/z808.3→527.2(多西紫杉醇)。结果测定紫杉醇的线性范围为0.5~1000ng/ml,相关系数r为0.9995,定量下限为0.5ng/ml,日内日间精密度分别小于11.52%和13.11%,准确度控制在87.05%~100.87%,提取回收率为85.04%~93.63%。结论该法快速、灵敏度高、专一性好,成功应用于小鼠静注10mg/kg水溶性多聚(L-谷氨酸)-丙氨酸-紫杉醇偶合物的药物动力学研究。 展开更多
关键词 紫杉醇 多聚(L-谷)--紫杉醇偶合物 液相色谱-质谱-质谱联用 小鼠血浆 药物动力学
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