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应用多重竞争性PCR联合毛细管电泳技术进行脊髓性肌萎缩症携带者筛查 被引量:1
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作者 李烨荣 吕娟 +3 位作者 王玉国 谭建新 邵彬彬 张菁菁 《遗传》 CAS CSCD 北大核心 2022年第7期618-628,共11页
脊髓性肌萎缩症(spinal muscular atrophy,SMA)是一种常染色体隐性遗传、儿童致死性神经系统疾病。SMA致病基因为运动神经元存活基因(survival motor neuron1,SMN1)。虽然检测SMN1基因拷贝数的方法众多,但目前适于大规模人群筛查的技术... 脊髓性肌萎缩症(spinal muscular atrophy,SMA)是一种常染色体隐性遗传、儿童致死性神经系统疾病。SMA致病基因为运动神经元存活基因(survival motor neuron1,SMN1)。虽然检测SMN1基因拷贝数的方法众多,但目前适于大规模人群筛查的技术较少。为寻求一种快速准确的实验技术可以用于人群中SMA携带者的大规模筛查,了解区域人群携带情况及常见变异的分布,本研究应用多重竞争性PCR联合毛细管电泳技术检测12例SMA患者及其父母SMN1基因拷贝数,同时对江苏地区151例健康孕妇人群SMN1基因进行拷贝数检测,并通过多重连接依赖探针扩增(multiplex ligation-dependent probe amplification,MLPA)技术验证检测结果。多重竞争性PCR联合毛细管电泳技术结果与MLPA结果一致,显示12例SMA患者均为SMN1基因零拷贝,其父母的SMN1基因拷贝数均为单拷贝,151例健康人群中检测出SMN1基因单拷贝3例(即SMA携带者),占2.0%;SMN1基因双拷贝134例,占88.7%;SMN1基因大于双拷贝14例,占9.3%。因此,多重竞争性PCR联合毛细管电泳技术作为一种快速、简便和准确的检测技术具有着应用于人群中SMA携带者的大规模筛查的潜力。 展开更多
关键词 脊髓性肌萎缩症 多重竞争性PCR联合毛细管电泳技术 SMN1基因 携带者筛查
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Effect of raspberry extract on wound healing 被引量:1
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作者 Wenjing Lu Meng Xu +4 位作者 Youwei Yuan Xuemei Zhang jianxin tan Junping He Yiling Tian 《Food Quality and Safety》 SCIE CSCD 2021年第3期271-278,共8页
The main purpose of this study was to investigate the effect of raspberry extract on wound healing and compare it with that of ellagic acid.The elimination of excess free radicals was the key to preventing wound infla... The main purpose of this study was to investigate the effect of raspberry extract on wound healing and compare it with that of ellagic acid.The elimination of excess free radicals was the key to preventing wound inflammation;cellular antioxidation activity was evaluated using an oxidative stress damage cell model.Cell proliferation ability was measured using the WST1 assay,and the migration capacity was determined using the wound scratch assay.A mouse wound model was used to verify the effect of raspberry extract on wound healing.The cellular antioxidant activity of the extract((50.31±3.17)pg/mL)was slightly lower than that of ellagic acid((44.59±2.38)pg/mL).The results of a cell proliferation assay showed that both raspberry extract and ellagic acid at 5μg/mL could significantly(P<0.01)promote the proliferation of HaCaT cells.After culturing for 24 h and 48 h,the cell healing rates of the extract were(41.11±0.38)per cent and(68.88±2.51)per cent,respectively,whereas the corresponding rates of ellagic acid were(39.01±2.40)per cent and(70.33±0.89)per cent;hence,there were no significant differences between them(P>0.05).The wound areas of mice fed low,medium,and high doses of raspberry extract for 14 days were 1.66,1.41,and 1.24 mm2,respectively,which were sign讦icantly lower than that of the blank control group,2.18 mm2(F<0.05).These findings indicate that raspberry extract and ellagic acid exhibit similar antioxidant capacities and equivalent cell proliferation-promoting capabilities.In the mouse test,raspberry extract effectively promoted a reduction in wound area.This work demonstrates the potential of raspberry extract in wound healing,suggesting a promising application of raspberry resources in the fields of functional foods,cosmetics,and medicine. 展开更多
关键词 Raspberry extract ellagic acid antioxidant activity cell proliferation wound healing.
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