目的对3个遗传性痉挛性截瘫(hereditary spastic paraplegia,HSP)患者家系的临床表现及致病基因进行分析。方法对甘肃省妇幼保健院(甘肃省中心医院)收集的3个HSP患者家系进行基因分析。结果家系1中先证者为FA2H c.159_176delGGCGGGCCAGG...目的对3个遗传性痉挛性截瘫(hereditary spastic paraplegia,HSP)患者家系的临床表现及致病基因进行分析。方法对甘肃省妇幼保健院(甘肃省中心医院)收集的3个HSP患者家系进行基因分析。结果家系1中先证者为FA2H c.159_176delGGCGGGCCAGGACATCAG(p.Arg53_Ser59delinsSer)纯合变异导致的常染色体隐性痉挛性截瘫35型,家系2中的先证者为AP4B1 c.1399G>T(p.Glu467Ter)纯合变异导致的常染色体隐性痉挛性截瘫47型,家系3中先证者为SPG11 c.7023C>G(p.Tyr2341Ter)的纯合变异导致的常染色体隐性痉挛性截瘫11型。其中,AP4B1 c.1399G>T(p.Glu467Ter)位点为尚未报告的变异。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南,该变异的致病性评级为致病性变异。结论本研究丰富了HSP致病基因AP4B1的变异谱,为提高临床对HSP患者的认识与诊断能力提供了基础性数据。展开更多
Cystic fibrosis is a life-threatening, wide spread genetic disease diagnosed in 1 to 3000 livebirths of the Caucasian population. Here a mouse model for this disease is described and optimized using the CFTR-channel s...Cystic fibrosis is a life-threatening, wide spread genetic disease diagnosed in 1 to 3000 livebirths of the Caucasian population. Here a mouse model for this disease is described and optimized using the CFTR-channel selective inhibitor CFTR(inh 172). The target parameter was mucociliary clearance measured using microdialysis of the transported fluorescent dye rhodamine in the mouse trachea in situ. The impact of Ap4A (diadenosine tetraphosphate) as a potential drug was investigated. Its inhalation was effective at low concentrations;established compounds such as Salbutamol and UTP increased mucociliary clearance as well. Our data show a functioning model of cystic fibrosis and the effectiveness of the newly tested Ap4A.展开更多
In this article the rooted planar near-4-regular Eulerian trails are enum erated and an explicit form ula for such m aps is presented. Further, the rooted near-4-regular Eulerian m aps on the torus are counted in an...In this article the rooted planar near-4-regular Eulerian trails are enum erated and an explicit form ula for such m aps is presented. Further, the rooted near-4-regular Eulerian m aps on the torus are counted in an exact w ay.展开更多
In this paper we describe the decomposition problem of a special kind of Ap,n,4p-5 polyhedra by using the associated matrices and their admissible operations.
文摘目的对3个遗传性痉挛性截瘫(hereditary spastic paraplegia,HSP)患者家系的临床表现及致病基因进行分析。方法对甘肃省妇幼保健院(甘肃省中心医院)收集的3个HSP患者家系进行基因分析。结果家系1中先证者为FA2H c.159_176delGGCGGGCCAGGACATCAG(p.Arg53_Ser59delinsSer)纯合变异导致的常染色体隐性痉挛性截瘫35型,家系2中的先证者为AP4B1 c.1399G>T(p.Glu467Ter)纯合变异导致的常染色体隐性痉挛性截瘫47型,家系3中先证者为SPG11 c.7023C>G(p.Tyr2341Ter)的纯合变异导致的常染色体隐性痉挛性截瘫11型。其中,AP4B1 c.1399G>T(p.Glu467Ter)位点为尚未报告的变异。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南,该变异的致病性评级为致病性变异。结论本研究丰富了HSP致病基因AP4B1的变异谱,为提高临床对HSP患者的认识与诊断能力提供了基础性数据。
文摘Cystic fibrosis is a life-threatening, wide spread genetic disease diagnosed in 1 to 3000 livebirths of the Caucasian population. Here a mouse model for this disease is described and optimized using the CFTR-channel selective inhibitor CFTR(inh 172). The target parameter was mucociliary clearance measured using microdialysis of the transported fluorescent dye rhodamine in the mouse trachea in situ. The impact of Ap4A (diadenosine tetraphosphate) as a potential drug was investigated. Its inhalation was effective at low concentrations;established compounds such as Salbutamol and UTP increased mucociliary clearance as well. Our data show a functioning model of cystic fibrosis and the effectiveness of the newly tested Ap4A.
文摘In this article the rooted planar near-4-regular Eulerian trails are enum erated and an explicit form ula for such m aps is presented. Further, the rooted near-4-regular Eulerian m aps on the torus are counted in an exact w ay.
文摘In this paper we describe the decomposition problem of a special kind of Ap,n,4p-5 polyhedra by using the associated matrices and their admissible operations.
