BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotype...BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotypes of CMD are broad,and there are only a few reports of CMD worldwide.CASE SUMMARY This report describes the cases of two children with CMD caused by B3GALNT2 gene mutation.The main manifestations of the two cases were abnormal walking posture,language development delay,and abnormal development of the white matter.Case 2 also had unreported symptoms of meningocele and giant arachnoid cyst.Both cases had compound heterozygous mutations of the B3GALNT2 gene,each containing a truncated mutation and a missense mutation,and three of the four loci had not been reported.Nineteen patients with CMD caused by B3GALNT2 gene mutation were found in the literature.Summary and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100%of the cases had nervous system involvement.Head magnetic resonance imaging often showed abnormal manifestations,and more than half of the children had eye and muscle involvement;some of the gene-related symptoms were self-healing.CONCLUSION B3GALNT2 gene can be used as one of the candidate genes for screening CMD,cognitive development retardation,epilepsy,and multiple brain developmental malformations in infants.展开更多
β-防御素体外试验显示具广谱抗菌活性 ,本研究应用转基因方法评估其体内抗菌作用。构建大鼠 β-防御素 - 2 (r BD2 )重组质粒 p BK- CMV- r BD2和 p CDNA- 3.1- Myc- His(+) - r BD2 ,通过脂质体包裹的方法将重组质粒经气管滴入 ,检测...β-防御素体外试验显示具广谱抗菌活性 ,本研究应用转基因方法评估其体内抗菌作用。构建大鼠 β-防御素 - 2 (r BD2 )重组质粒 p BK- CMV- r BD2和 p CDNA- 3.1- Myc- His(+) - r BD2 ,通过脂质体包裹的方法将重组质粒经气管滴入 ,检测其在气管和肺组织表达情况 ,并应用肺组织匀浆上清菌落计数法检察对绿脓杆菌的肺清除率。结果显示在基因转染大鼠的气管和肺组织内均检测到 r BD2 - His融合蛋白基因 m RNA和蛋白的表达 ,说明脂质体包裹的重组 β-防御素 - 2 p BK- CMV- r BD2质粒可有效转染气道上皮组织。肺细菌清除率实验显示构建重组质粒 p BK-CMV- r BD2气道转染与对照相比可显著提高肺组织对绿脓杆菌的清除率 (n(8,p(0 .0 1)。本研究表明 β-防御素基因气道转染可提高呼吸道天然抗感染防御功能 ,可能在呼吸道感染的防治实践中具有潜在应用价值。展开更多
目的:探讨缝隙连接蛋白beta2(GJB2)基因rs2274083、rs2274084和rs72474224位点多态性与汉族人群职业噪声性听力损失易感性之间的关系。方法:应用1∶1病例-对照研究,病例组177例为电测听结果双耳高频平均听阈≥40 d B的在岗工人,对照组17...目的:探讨缝隙连接蛋白beta2(GJB2)基因rs2274083、rs2274084和rs72474224位点多态性与汉族人群职业噪声性听力损失易感性之间的关系。方法:应用1∶1病例-对照研究,病例组177例为电测听结果双耳高频平均听阈≥40 d B的在岗工人,对照组177例为年龄、性别、作业工龄与病例组相匹配,并且电测听结果双耳高频平均听阈<25 d B的同岗位轮班工人。采用PCR扩增177对样本目的基因片段,对目的基因片段进行测序,确定待研究位点的基因型。结果:GJB2基因的rs2274084位点C、T等位基因频率在病例组和对照组中分布分别为73.73%、26.27%和63.84%、36.16%,其中CC、TC、TT基因型在病例组和对照组中的分布分别为55.37%、36.72%、7.91%和40.11%、47.46%、12.43%。该位点的基因型频率与等位基因频率在病例与对照组之间的差异均具有统计学意义(P<0.05)。rs2274083和rs72474224位点基因型分布在病例与对照组间的差异均无统计学意义(P>0.05)。结论:GJB2rs2274084可能是汉族人群职业噪声性听力损失的易感基因位点,携带C等位基因的工人,暴露职业噪声时更易发生听力损失。展开更多
文摘BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotypes of CMD are broad,and there are only a few reports of CMD worldwide.CASE SUMMARY This report describes the cases of two children with CMD caused by B3GALNT2 gene mutation.The main manifestations of the two cases were abnormal walking posture,language development delay,and abnormal development of the white matter.Case 2 also had unreported symptoms of meningocele and giant arachnoid cyst.Both cases had compound heterozygous mutations of the B3GALNT2 gene,each containing a truncated mutation and a missense mutation,and three of the four loci had not been reported.Nineteen patients with CMD caused by B3GALNT2 gene mutation were found in the literature.Summary and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100%of the cases had nervous system involvement.Head magnetic resonance imaging often showed abnormal manifestations,and more than half of the children had eye and muscle involvement;some of the gene-related symptoms were self-healing.CONCLUSION B3GALNT2 gene can be used as one of the candidate genes for screening CMD,cognitive development retardation,epilepsy,and multiple brain developmental malformations in infants.
文摘β-防御素体外试验显示具广谱抗菌活性 ,本研究应用转基因方法评估其体内抗菌作用。构建大鼠 β-防御素 - 2 (r BD2 )重组质粒 p BK- CMV- r BD2和 p CDNA- 3.1- Myc- His(+) - r BD2 ,通过脂质体包裹的方法将重组质粒经气管滴入 ,检测其在气管和肺组织表达情况 ,并应用肺组织匀浆上清菌落计数法检察对绿脓杆菌的肺清除率。结果显示在基因转染大鼠的气管和肺组织内均检测到 r BD2 - His融合蛋白基因 m RNA和蛋白的表达 ,说明脂质体包裹的重组 β-防御素 - 2 p BK- CMV- r BD2质粒可有效转染气道上皮组织。肺细菌清除率实验显示构建重组质粒 p BK-CMV- r BD2气道转染与对照相比可显著提高肺组织对绿脓杆菌的清除率 (n(8,p(0 .0 1)。本研究表明 β-防御素基因气道转染可提高呼吸道天然抗感染防御功能 ,可能在呼吸道感染的防治实践中具有潜在应用价值。
文摘目的:探讨缝隙连接蛋白beta2(GJB2)基因rs2274083、rs2274084和rs72474224位点多态性与汉族人群职业噪声性听力损失易感性之间的关系。方法:应用1∶1病例-对照研究,病例组177例为电测听结果双耳高频平均听阈≥40 d B的在岗工人,对照组177例为年龄、性别、作业工龄与病例组相匹配,并且电测听结果双耳高频平均听阈<25 d B的同岗位轮班工人。采用PCR扩增177对样本目的基因片段,对目的基因片段进行测序,确定待研究位点的基因型。结果:GJB2基因的rs2274084位点C、T等位基因频率在病例组和对照组中分布分别为73.73%、26.27%和63.84%、36.16%,其中CC、TC、TT基因型在病例组和对照组中的分布分别为55.37%、36.72%、7.91%和40.11%、47.46%、12.43%。该位点的基因型频率与等位基因频率在病例与对照组之间的差异均具有统计学意义(P<0.05)。rs2274083和rs72474224位点基因型分布在病例与对照组间的差异均无统计学意义(P>0.05)。结论:GJB2rs2274084可能是汉族人群职业噪声性听力损失的易感基因位点,携带C等位基因的工人,暴露职业噪声时更易发生听力损失。
