Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabilitation of deafness. Methods DNA samples, immortalized cell lines as well as detailed clinical and...Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabilitation of deafness. Methods DNA samples, immortalized cell lines as well as detailed clinical and audiometric data were collected through a national genetic resources collecting network. Two conventional genetic approaches were used in the studies. Linkage analysis in X chromosome and autosomes with microsatellite markers were performed in large families for gene mapping and positional cloning of novel genes. Candidate gene approach was used for screening the mtDNA 12SrRNA, GJB2 and SLC26A4 mutations in population -based samples. Results A total of 2,572 Chinese hearing loss families or sporadic cases were characterized in the reported studies, including seven X-linked, one Y-linked, 28 large and multiplex autosomal dominant hearing loss families, 607 simplex autosomal recessive hereditary hearing loss families, 100 mitochondrial inheritance families, 147 GJB2 induced hearing loss cases, 230 cases with enlarged vestibular aqueduct (EVA) syndrome, 169 sporadic cases with auditory neuropathy, and 1,283 sporadic sensorineural hearing loss cases. Through linkage analysis or sequence analysis, two X-linked families were found transmitting two novel mutations in the POU3F4 gene, while another X -linked family was mapped onto a novel locus, nominated as AUNX1 (auditory neuropathy, X-linked locus 1). The only Y-linked family was mapped onto the DFNY1 locus(Y-linked locus 1, DFNY1). Eight of the 28 autosomal dominant families were linked to various autosomal loci. In population genetics studies, 2,567 familial cases and sporadic patients were subjected to mutation screening for three common hearing loss genes: mtDNA 12S rRNA 1555G, GJB2 and SLC26A4. The auditory neuropathy cases in our samples were screened for OTOF gene mutations. Conclusions These data show that the Chinese population has a genetic load on hereditary hearing loss. Establishing personalized surveillance and prevention models for hearing loss based on genetic research will provide the opportunity to decrease the prevalence of deafness in the Chinese population.展开更多
High entropy alloys(HEAs) are of great interest in the community of materials science and engineering due to their unique phase structure. They are constructed with five or more principal alloying elements in equimola...High entropy alloys(HEAs) are of great interest in the community of materials science and engineering due to their unique phase structure. They are constructed with five or more principal alloying elements in equimolar or near-equimolar ratio. Therefore, HEAs can derive their performance from multiple principal elements rather than a single element. In this work, solid-state cold spraying(CS) was applied for the first time to produce FeCoNiCrMn HEA coating. The experimental results confirm that CS can be used to produce a thick HEA coating with low porosity. As a low-temperature deposition process, CS completely retained the HEA phase structure in the coating without any phase transformation. The characterization also reveals that the grains in the CSed HEA coating had experienced significant refinement as compared to those in the as-received HEA powder due the occurrence of dynamic recrystallization at the highly deformed interparticle region. Due to the increased dislocation density and grain boundaries,CSed HEA coating was much harder than the as-received powder. The tribological study shows that the CSed FeCoNiCrMn HEA coating resulted in lower wear rate than laser cladded HEA coatings.展开更多
In this study,HEA/AI composite interlayer was used to fabricate Ti/Mg bimetal composites by solidliquid compound casting process.The Al layer was prepared on the surface of TC4 alloy by hot dipping,and the FeCoNiCr HE...In this study,HEA/AI composite interlayer was used to fabricate Ti/Mg bimetal composites by solidliquid compound casting process.The Al layer was prepared on the surface of TC4 alloy by hot dipping,and the FeCoNiCr HEA layer was prepared by magnetron sputtering onto the Al layer.The influence of the HEA layer thickness and pouring temperature on interface evolution was investigated based on SEM observation and thermodynamic analysis.Results indicate that the sluggish diffusion effect of HEA can effectively inhibit the interfacial diffusion between Al and Mg,which is conducive to the formation of solid solution,especially when the thickness of HEA is 800 nm.With the increase of casting temperature from 720 ℃ to 730 ℃,740℃,and 750 ℃,α-Al(Mg),α-Al(Mg)+Al3Mg2,Al3Mg2+Al12Mg17,and Al12Mg17+δ-Mg are formed at the interface of Ti/Mg bimetal,respectively.When the thickness of the HEA layer is 800 nm and the pouring temperature is 720 ℃,the bonding strength of the Ti/Mg bimetal can reach the maximum of 93.6 MPa.展开更多
基金supported by grants from the National High Tech Development Project (No. 2006AA028 Z181)the National Natural Science Foundation of China,Key Project (No. 30830104)+5 种基金the National Natural Science Foundation of China(No. 30771857, 30672310 & 30771203)the Foundation of National Excellent Doctoral Thesis (No. 200463)Beijing Nature Science Technology Major Project (No. D0906005 040291 & 7070002)the National 973 Project (No. 2007CB 507400)as well as the National Eleventh Scientific Program (No. 2006BAI02B06& 2007BAI18B12)the Sun Yat-Sen University Start-up Fund (Grant No. 3171310)
文摘Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabilitation of deafness. Methods DNA samples, immortalized cell lines as well as detailed clinical and audiometric data were collected through a national genetic resources collecting network. Two conventional genetic approaches were used in the studies. Linkage analysis in X chromosome and autosomes with microsatellite markers were performed in large families for gene mapping and positional cloning of novel genes. Candidate gene approach was used for screening the mtDNA 12SrRNA, GJB2 and SLC26A4 mutations in population -based samples. Results A total of 2,572 Chinese hearing loss families or sporadic cases were characterized in the reported studies, including seven X-linked, one Y-linked, 28 large and multiplex autosomal dominant hearing loss families, 607 simplex autosomal recessive hereditary hearing loss families, 100 mitochondrial inheritance families, 147 GJB2 induced hearing loss cases, 230 cases with enlarged vestibular aqueduct (EVA) syndrome, 169 sporadic cases with auditory neuropathy, and 1,283 sporadic sensorineural hearing loss cases. Through linkage analysis or sequence analysis, two X-linked families were found transmitting two novel mutations in the POU3F4 gene, while another X -linked family was mapped onto a novel locus, nominated as AUNX1 (auditory neuropathy, X-linked locus 1). The only Y-linked family was mapped onto the DFNY1 locus(Y-linked locus 1, DFNY1). Eight of the 28 autosomal dominant families were linked to various autosomal loci. In population genetics studies, 2,567 familial cases and sporadic patients were subjected to mutation screening for three common hearing loss genes: mtDNA 12S rRNA 1555G, GJB2 and SLC26A4. The auditory neuropathy cases in our samples were screened for OTOF gene mutations. Conclusions These data show that the Chinese population has a genetic load on hereditary hearing loss. Establishing personalized surveillance and prevention models for hearing loss based on genetic research will provide the opportunity to decrease the prevalence of deafness in the Chinese population.
基金the financial support from Irish Research Council Project(GOIPD-2017-912)European Space Agency(4000112844/14/NL/FE)
文摘High entropy alloys(HEAs) are of great interest in the community of materials science and engineering due to their unique phase structure. They are constructed with five or more principal alloying elements in equimolar or near-equimolar ratio. Therefore, HEAs can derive their performance from multiple principal elements rather than a single element. In this work, solid-state cold spraying(CS) was applied for the first time to produce FeCoNiCrMn HEA coating. The experimental results confirm that CS can be used to produce a thick HEA coating with low porosity. As a low-temperature deposition process, CS completely retained the HEA phase structure in the coating without any phase transformation. The characterization also reveals that the grains in the CSed HEA coating had experienced significant refinement as compared to those in the as-received HEA powder due the occurrence of dynamic recrystallization at the highly deformed interparticle region. Due to the increased dislocation density and grain boundaries,CSed HEA coating was much harder than the as-received powder. The tribological study shows that the CSed FeCoNiCrMn HEA coating resulted in lower wear rate than laser cladded HEA coatings.
基金financial supports from the National Natural Science Foundation of China (No. 51875062)China Postdoctoral Science Foundation (No. 2021M700567)。
文摘In this study,HEA/AI composite interlayer was used to fabricate Ti/Mg bimetal composites by solidliquid compound casting process.The Al layer was prepared on the surface of TC4 alloy by hot dipping,and the FeCoNiCr HEA layer was prepared by magnetron sputtering onto the Al layer.The influence of the HEA layer thickness and pouring temperature on interface evolution was investigated based on SEM observation and thermodynamic analysis.Results indicate that the sluggish diffusion effect of HEA can effectively inhibit the interfacial diffusion between Al and Mg,which is conducive to the formation of solid solution,especially when the thickness of HEA is 800 nm.With the increase of casting temperature from 720 ℃ to 730 ℃,740℃,and 750 ℃,α-Al(Mg),α-Al(Mg)+Al3Mg2,Al3Mg2+Al12Mg17,and Al12Mg17+δ-Mg are formed at the interface of Ti/Mg bimetal,respectively.When the thickness of the HEA layer is 800 nm and the pouring temperature is 720 ℃,the bonding strength of the Ti/Mg bimetal can reach the maximum of 93.6 MPa.
