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Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth 被引量:3
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作者 Xin Zhao Ming-Ming Jiang +8 位作者 Yi-Zhou Yan Lei Liu Yong-Zhi Xie Xiao-Bo Li Zheng-Mao Hu Xiao-Hong Zi Kun Xia Bei-Sha Tang Ru-Xu Zhang 《Chinese Medical Journal》 SCIE CAS CSCD 2018年第2期151-155,共5页
Background: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMTI, and AD-CMT2, respectively. Pathogenic variants in these ... Background: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMTI, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families. Methods: A total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital. We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMTI probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2 probands, using polymerase chain reaction and Sanger sequencing. All these patients were out of 315 unrelated Chinese CMT families and genetically undiagnosed after exclusion of pathogenic variants of PMP22, MFN2, MPZ, GJB 1, GDAP1, HSPB1, HSPB8, EGR2, NEFL. and RABT. Candidate variants were analyzed based on the standards and guidelines of American College of Medical Genetics and Genomics (ACMG). Clinical features were reevaluated. Results: We identified three novel heterozygous variants such as p.L95V (c.283C〉G), p.L 1048P (c.3143T〉C), and p.V 1105 M (c.3313G〉A) of SH3TC2 gene and no pathogenic variants of PMP2 and BSCL2 genes. Although evaluation in silico and screening in the healthy control revealed that the three SH3TC2 variants were likely pathogenic, no second allele variants were discovered. According to the standards and guidelines of ACMG, the heterozygous SH3TC2 variants such as p.L95V, p.LI048P, and p.V1105M were considered to be of uncertain significance. Conclusions: SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese CMT patients. Further studies to confirm our findings are needed. 展开更多
关键词 BSCL2 Charcot-Marie-Tooth Disease pmp2 SH3TC2
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Theoretical Studies on the Reaction Mechanism of Hydroxyl Radical with 1,1,1-Trichloroethane 被引量:2
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作者 胡晓萍 王丙星 +1 位作者 高颖 杨兵 《Chinese Journal of Structural Chemistry》 SCIE CAS CSCD 2011年第8期1199-1206,共8页
Ab initio and density functional theory calculations have been carried out to investigate the reaction of hydroxyl radical (OH) and 1,1,1-trichloroethane (CH3CCl3). The potential energy surface has been given acco... Ab initio and density functional theory calculations have been carried out to investigate the reaction of hydroxyl radical (OH) and 1,1,1-trichloroethane (CH3CCl3). The potential energy surface has been given according to the relative energies calculated at the MP2/cc-pVTZ level after the spin projection (PMP2). Five reaction channels were identified and the intramolecular hydrogen bonding was observed in some transition state structures. The barrier heights and reaction enthalpies calculated for all possible channels show that the hydrogen abstraction channel is predominant kinetically and thermodynamically. The contribution from other channels was predicted to be minor. 展开更多
关键词 hydroxyl radical 1 1 1-trichloroethane hydrogen abstraction intramolecular bonding transition state pmp2
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机动车PM2.5排放特性研究
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作者 刘志锋 李伟 《汽车工业研究》 2014年第2期36-40,共5页
本文利用符合PMP规程的MEXA-1000SPCS对不同技术类型的机动车进行了PM2.5数量排放研究,并对PM2.5排放较高的两类车型(GDI和国Ⅳ柴油车)进行了冷热试验对比。试验结果表明:不同技术类型PM2.5排放量级差异明显,国Ⅴ柴油车<MPI汽油车<... 本文利用符合PMP规程的MEXA-1000SPCS对不同技术类型的机动车进行了PM2.5数量排放研究,并对PM2.5排放较高的两类车型(GDI和国Ⅳ柴油车)进行了冷热试验对比。试验结果表明:不同技术类型PM2.5排放量级差异明显,国Ⅴ柴油车<MPI汽油车<GDI汽油车<国Ⅳ柴油车。GDI汽油车PM2.5排放受温度影响要大于负荷的影响。国Ⅳ柴油车型PM2.5排放受车辆负荷的影响要大于温度的影响。DPF技术能够有效降低PM2.5排放。无论何种车型,瞬态加速工况都会造成PM2.5排放急剧增高。 展开更多
关键词 PMP、PM2 5 机动车 数量排放
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HELIX SENSE-SELECTIVE COPOLYMERIZATION OF TRIPHENYLMETHYL METHACRYLATE WITH CHIRAL ANIONIC INITIATORS
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作者 任长玉 陈传福 习复 《Chinese Journal of Polymer Science》 SCIE CAS CSCD 1994年第4期379-384,共6页
Optically active copolymers of pairs of three monomers, triphenyl (methyl methacrylate)and one or two pyridyl substituted methyl methacrylate homologues, were obtained by helix-sense-selective copolymerization using c... Optically active copolymers of pairs of three monomers, triphenyl (methyl methacrylate)and one or two pyridyl substituted methyl methacrylate homologues, were obtained by helix-sense-selective copolymerization using complexes of organolithium with chiral ligand as anionicinitiators in toluene at low temperature. The copolymers obtained with (-)-sparteine (Sp) and(S,S)-(+)-and (R, R)-(-)-2, 3-dimethoxy-1, 4-bis (dimethylamino) butanes((+)-and (-)-DDB) complexes of organolithium showed low optical activity, but PMP complex with N, N-diphenylethyleneamine monolithium amide (PMP-DPEDA-Li) was effective in synthesizingcopolymers of high optical rotation ([α]_D^(25) about+320~1370°)which were comparable to thoseof relative homopolymers with one-handed helical structure. 展开更多
关键词 Phenyl [bis (2-pyridyl) methyl methacrylate (s)-(+)-1-(2pyrrolidinyl-methyl) pyrrolidine (PMP) Anionic asymmetric copolymerization Optically active copolymer
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