Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease （HD） family, for providing them with genetic counseling, and making preparation for the further research on pathog...Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease （HD） family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD. Methods According to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods. Results Eight of twenty-five family members carried abnormal allele： Ⅲ10 Ⅲ12, IIIt4, Ⅳ3, and Ⅴ2 carded （CAG） 48, Ⅳ11 and Ⅳ12 carried （CAG） 67, and Ⅳ14 carried （CAG） 63, in contrast with the 8-25 CAG trinucleotides in the members of control group. Ⅳ14 carried 15 more CAG trinucleotides than her father Ⅲ10. Conclusion The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation （characterized by earlier age of onset and increasing severity） of the patientⅣ12.展开更多
An approach is introduced to construct global discontinuous solutions in L~∞ for HamiltonJacobi equations. This approach allows the initial data only in L~∞ and applies to the equations with nonconvex Hamiltonians....An approach is introduced to construct global discontinuous solutions in L~∞ for HamiltonJacobi equations. This approach allows the initial data only in L~∞ and applies to the equations with nonconvex Hamiltonians. The profit functions are introduced to formulate the notion of discoatinuous solutions in L~∞. The existence of global discontinuous solutions in L~∞ is established. These solutions in L~∞ coincide with the viscosity solutions and the minimax solutions, provided that the initial data are continuous. A prototypical equation is analyzed to examine the L~∞ stability of our L~∞ solutions. The analysis also shows that global discontinuous solutions are determined by the topology in which the initial data are approximated.展开更多
文摘Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease （HD） family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD. Methods According to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods. Results Eight of twenty-five family members carried abnormal allele： Ⅲ10 Ⅲ12, IIIt4, Ⅳ3, and Ⅴ2 carded （CAG） 48, Ⅳ11 and Ⅳ12 carried （CAG） 67, and Ⅳ14 carried （CAG） 63, in contrast with the 8-25 CAG trinucleotides in the members of control group. Ⅳ14 carried 15 more CAG trinucleotides than her father Ⅲ10. Conclusion The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation （characterized by earlier age of onset and increasing severity） of the patientⅣ12.
文摘An approach is introduced to construct global discontinuous solutions in L~∞ for HamiltonJacobi equations. This approach allows the initial data only in L~∞ and applies to the equations with nonconvex Hamiltonians. The profit functions are introduced to formulate the notion of discoatinuous solutions in L~∞. The existence of global discontinuous solutions in L~∞ is established. These solutions in L~∞ coincide with the viscosity solutions and the minimax solutions, provided that the initial data are continuous. A prototypical equation is analyzed to examine the L~∞ stability of our L~∞ solutions. The analysis also shows that global discontinuous solutions are determined by the topology in which the initial data are approximated.
