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
In this study, we developed a general method to analytically tackle a kind of movable boundary problem from the viewpoint of energy variation. Having grouped the adhesion of a micro-beam, droplet and carbon nanotube ...In this study, we developed a general method to analytically tackle a kind of movable boundary problem from the viewpoint of energy variation. Having grouped the adhesion of a micro-beam, droplet and carbon nanotube （CNT） ring on a substrate into one framework, we used the developed line of reasoning to investigate the adhesion behaviors of these systems. Based upon the derived governing equations and transversality conditions, explicit solutions involving the critical parameters and morphologies for the three systems are successfully obtained, and then the parameter analogies and common characteristics of them are thor- oughly investigated. The presented method has been verified via the concept of energy release rate in fracture mechanics. Our analyses provide a new approach for exploring the mechanism of different systems with similarities as well as for understanding the unity of nature. The analysis results may be beneficial for the design of nano-structured materi- als, and hold potential for enhancing their mechanical, chemical, optical and electronic properties.展开更多
In this note,some characterizations of hereditary rings using injectivity classes and projectivity classes are given.These results unify many well known results.
Reaction products of 2,4,6-tris(4-phenyl-phenoxy)-1,3,5-triazine derived from 4-phenylphenol cyanate ester and phenyl glycidyl ether were analyzed. In addition to an isocyanurate compound and an oxazolidone compound w...Reaction products of 2,4,6-tris(4-phenyl-phenoxy)-1,3,5-triazine derived from 4-phenylphenol cyanate ester and phenyl glycidyl ether were analyzed. In addition to an isocyanurate compound and an oxazolidone compound which were well known as reaction products of cyanate esters and epoxy resins, compounds with hybrid ring structure of cyanurate/isocyanurate were determined. Gibbs free energies of the compound having hybrid ring structure of cyanurate/isocyanurate with two isocyanurate moiety were found to be lower than that of the compound with cyanurate ring structure through calculations. Calculation data supported the existence of hybrid ring structure of cy-anurate/isocyanurate. It was revealed that isomerization from cyanurate to isocyanurate occurs via hybrid ring structure of cyanurate/isocyanurate in the reaction of aryl cyanurate and epoxy.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supported by the National Natural Science Foundation of China (11272357 and 11102140)Doctoral Fund of Ministry of Education of China (200804251520 and 20110141120024)Natural Science Foundation of Shandong Province (ZR2009AQ006)
文摘In this study, we developed a general method to analytically tackle a kind of movable boundary problem from the viewpoint of energy variation. Having grouped the adhesion of a micro-beam, droplet and carbon nanotube （CNT） ring on a substrate into one framework, we used the developed line of reasoning to investigate the adhesion behaviors of these systems. Based upon the derived governing equations and transversality conditions, explicit solutions involving the critical parameters and morphologies for the three systems are successfully obtained, and then the parameter analogies and common characteristics of them are thor- oughly investigated. The presented method has been verified via the concept of energy release rate in fracture mechanics. Our analyses provide a new approach for exploring the mechanism of different systems with similarities as well as for understanding the unity of nature. The analysis results may be beneficial for the design of nano-structured materi- als, and hold potential for enhancing their mechanical, chemical, optical and electronic properties.
文摘In this note,some characterizations of hereditary rings using injectivity classes and projectivity classes are given.These results unify many well known results.
文摘Reaction products of 2,4,6-tris(4-phenyl-phenoxy)-1,3,5-triazine derived from 4-phenylphenol cyanate ester and phenyl glycidyl ether were analyzed. In addition to an isocyanurate compound and an oxazolidone compound which were well known as reaction products of cyanate esters and epoxy resins, compounds with hybrid ring structure of cyanurate/isocyanurate were determined. Gibbs free energies of the compound having hybrid ring structure of cyanurate/isocyanurate with two isocyanurate moiety were found to be lower than that of the compound with cyanurate ring structure through calculations. Calculation data supported the existence of hybrid ring structure of cy-anurate/isocyanurate. It was revealed that isomerization from cyanurate to isocyanurate occurs via hybrid ring structure of cyanurate/isocyanurate in the reaction of aryl cyanurate and epoxy.
