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假肥大型肌营养不良症(DMD/BMD)遗传学诊断及剪接突变的致病性分析(英文) 被引量:3
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作者 Yan-mei YANG Kai YAN +7 位作者 Bei liU Min CHEN li-ya WANG Ying-zhi HUANG Ye-qing QIAN Yi-xi SUN hong-ge li Min-yue DONG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2019年第9期753-771,共19页
目的:针对100例无亲缘关系的假肥大型肌营养不良症(DMD/BMD)患者,联合应用多种检测技术进行遗传学诊断,并且建立个体化产前诊断及胚胎植入前遗传学诊断方案,以最大限度地降低DMD/BMD患儿的出生。创新点:通过minigene剪接实验分析DMD:c.1... 目的:针对100例无亲缘关系的假肥大型肌营养不良症(DMD/BMD)患者,联合应用多种检测技术进行遗传学诊断,并且建立个体化产前诊断及胚胎植入前遗传学诊断方案,以最大限度地降低DMD/BMD患儿的出生。创新点:通过minigene剪接实验分析DMD:c.1149+1G>A和c.1150-2A>G突变是否导致剪接异常,并确定剪接方式。方法:收集100例无亲缘关系DMD/BMD患者的临床资料,应用多重连接依赖式探针扩增技术(MLPA)、第二代测序(NGS)、minigene剪接实验(HMSA)进行遗传学诊断,并通过单体型分析及性别鉴定进行胚胎植入前遗传学诊断。结论:联合应用多种检测技术可以尽早地对患者进行遗传学诊断,为临床遗传咨询和产前诊断及胚胎植入前遗传学诊断提供了科学依据。 展开更多
关键词 DMD基因 突变 遗传学诊断 剪接突变 Minigene剪接实验
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Mechanism of Strength Improvement of Magnetite Pellet by Adding Boron-bearing Iron Concentrate 被引量:3
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作者 Hong-wei GUO Jun-li BAI +1 位作者 Jian-liang ZHANG hong-ge li 《Journal of Iron and Steel Research(International)》 SCIE EI CAS CSCD 2014年第1期9-15,共7页
The mechanism of improving compressive strength of magnetite pellet by adding boron-bearing iron concentrate was studied. Boron-bearing iron concentrate and magnetite were mixed, pelletized and roasted under differ en... The mechanism of improving compressive strength of magnetite pellet by adding boron-bearing iron concentrate was studied. Boron-bearing iron concentrate and magnetite were mixed, pelletized and roasted under differ ent roasting conditions. Then, compressive strength of pellets was tested, and polished sections of the roasted pellets were analyzed from the perspective of mineralogy. Finally, the effects of different proportions, roasting temperatures and roasting time of boron-bearing iron concentrate on the compressive strength of magnetite pellets were investigated and explained. 展开更多
关键词 boron-bearing iron concentrate MAGNETITE pellet compressive strength roasting condition PROPORTION
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Enhanced tensile properties and wear resistance of additively manufactured CoCrFeMnNi high-entropy alloy at cryogenic temperature 被引量:4
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作者 hong-ge li Peng-Cheng Che +4 位作者 Xiao-Kun Yang Yong-Jiang Huang Zhi-liang Ning Jian-Fei Sun Hong-Bo Fan 《Rare Metals》 SCIE EI CAS CSCD 2022年第4期1210-1216,共7页
Here,bulk CoCrFeMnNi high-entropy alloy was prepared via laser melting deposition,and its microstructure and mechanical properties at room and cryogenic temperature were investigated by a series of microstructural cha... Here,bulk CoCrFeMnNi high-entropy alloy was prepared via laser melting deposition,and its microstructure and mechanical properties at room and cryogenic temperature were investigated by a series of microstructural character-izations and mechanical tests.The results showed that the as-built samples possessed a single fcc phase and highly dense microstructures.Compared to the mechanical prop-erties at room temperature,tensile properties,microhard-ness and wear resistance of the as-built samples showed a signiflcant enhancement at cryogenic temperature,which was attributed to the deformation mechanism converting from dislocation slipping to deformation twinning at cryogenic temperature.The formation of deformation nanotwins signiflcantly improved the deformation resis-tance in cryogenic conditions,and the sliding wear in the liquid nitrogen could decrease the oxygen concentration,suppress the generation of oxide particles and thus enhance the wear resistance. 展开更多
关键词 WEAR CRYOGENIC ALLOY
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The association between the two more common genetic causes of spermatogenic failure:a 7-year retrospective study
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作者 hong-ge li li-Hong Fan +4 位作者 Bei liu Ye-Qing Qian Min Chen Yi-Xi Sun Min-Yue Dong 《Asian Journal of Andrology》 SCIE CAS CSCD 2020年第6期642-648,共7页
Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure.However,the relati on ship between chromosomal aberrations and Y chromosome mi... Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure.However,the relati on ship between chromosomal aberrations and Y chromosome microdeletio ns is still un clear.This study was to investigate the incidenee and characteristics of chromosomal aberrations and Y chromosome microdeletions in infertile men,and to explore whether there was a correlation between the two genetic defects of spermatogenic failure.A 7-year retrospective study was conducted on 5465 infertile men with nonobstructive azoospermia or oligozoospermia.Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding techniques.Y chromosome microdeletions were screened by multiplex PCR amplification with six specific sequence-tagged site(STS)markers.Among the 5465 infertile men analyzed,371(6.8%)had Y chromosome microdeletions and the prevalence of microdeletions in azoospermia was 10.5%(259/2474)and in severe oligozoospermia was 6.3%(107/1705).A total of 4003(73.2%)infertile men underwent karyotyping;370(9.2%)had chromosomal abnormalities and 222(5.5%)had chromosomal polymorphisms.Karyotype analysis was performed on 272(73.3%)patients with Y chromosome microdeletions and 77(28.3%)had chromosomal aberrations,all of which involved sex chromosomes but not autosomes.There was a sign ifica nt d iff ere nee in the frequency of chromosomal abno rmalities betwee n men with and without Y chromosome microdeletions(P<0.05). 展开更多
关键词 azoospermia factor chromosomal aberrations infertile men nonobstructive azoospermia and oligozoospermia spermatogenic failure Y chromosome microdeletions
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