Mutations in activation-induced cytidine deaminase can cause an autosomal rec essive form of hyper-IgM syndrome. We have examined a Tunisian family composed of six members: two healthy parents, their two healthy daugh...Mutations in activation-induced cytidine deaminase can cause an autosomal rec essive form of hyper-IgM syndrome. We have examined a Tunisian family composed of six members: two healthy parents, their two healthy daughters and two affecte d sons. We found a homozygous transversion G to T in the two sons while heterozy gosity for the mutation was found in all other family members. This alteration i s localised in intron 2 at the +1 position resulting in defective splicing. Use of various intronic cryptic splice-sites led to expression of various aberrant mRNA species. Conclusion: This is a novel mutation found in the gene encoding f or activation-induced cytidine deaminase in a Tunisian family with hyper-IgM t ype 2 syndrome. This alteration leads to the use of two cryptic splicing sites c ausing the formation of two different mRNA species.展开更多
In the light of the problem of weak reflection signals shielded by strong reflections from the concrete surface,the detection and the recognition of hidden micro-cracks in the shield tunnel lining were studied using t...In the light of the problem of weak reflection signals shielded by strong reflections from the concrete surface,the detection and the recognition of hidden micro-cracks in the shield tunnel lining were studied using the orthogonal matching pursuit and the Hilbert transform(OMHT method).First,according to the matching pursuit algorithm and the strong reflection-forming mechanism,and based on the sparse representation theory,a sparse dictionary,adapted to the characteristics of the strong reflection signal,was selected,and a matching decomposition of each signal was performed so that the weak target signal submerged in the strong reflection was displayed more strongly.Second,the Hilbert transform was used to extract multiple parameters,such as the instantaneous amplitude,the instantaneous frequency,and the instantaneous phase,from the processed signal,and the ground penetrating radar(GPR)image was comprehensively analyzed and determined from multiple angles.The results show that the OMHT method can accurately weaken the effect of the strong impedance interface and effectively enhance the weak reflected signal energy of hidden micro-crack in the shield tunnel segment.The resolution of the processed GPR image is greatly improved,and the reflected signal of the hidden micro-crack is easily visible,which proves the validity and accuracy of the analysis method.展开更多
文摘Mutations in activation-induced cytidine deaminase can cause an autosomal rec essive form of hyper-IgM syndrome. We have examined a Tunisian family composed of six members: two healthy parents, their two healthy daughters and two affecte d sons. We found a homozygous transversion G to T in the two sons while heterozy gosity for the mutation was found in all other family members. This alteration i s localised in intron 2 at the +1 position resulting in defective splicing. Use of various intronic cryptic splice-sites led to expression of various aberrant mRNA species. Conclusion: This is a novel mutation found in the gene encoding f or activation-induced cytidine deaminase in a Tunisian family with hyper-IgM t ype 2 syndrome. This alteration leads to the use of two cryptic splicing sites c ausing the formation of two different mRNA species.
基金Projects(51678071,51608183)supported by the National Natural Science Foundation of ChinaProjects(CX2018B530,CX2018B531)supported by the Postgraduate Research and Innovation-funded Project of Hunan Province,ChinaProjects(16BCX13,16BCX09)supported by Changsha University of Science and Technology,China
文摘In the light of the problem of weak reflection signals shielded by strong reflections from the concrete surface,the detection and the recognition of hidden micro-cracks in the shield tunnel lining were studied using the orthogonal matching pursuit and the Hilbert transform(OMHT method).First,according to the matching pursuit algorithm and the strong reflection-forming mechanism,and based on the sparse representation theory,a sparse dictionary,adapted to the characteristics of the strong reflection signal,was selected,and a matching decomposition of each signal was performed so that the weak target signal submerged in the strong reflection was displayed more strongly.Second,the Hilbert transform was used to extract multiple parameters,such as the instantaneous amplitude,the instantaneous frequency,and the instantaneous phase,from the processed signal,and the ground penetrating radar(GPR)image was comprehensively analyzed and determined from multiple angles.The results show that the OMHT method can accurately weaken the effect of the strong impedance interface and effectively enhance the weak reflected signal energy of hidden micro-crack in the shield tunnel segment.The resolution of the processed GPR image is greatly improved,and the reflected signal of the hidden micro-crack is easily visible,which proves the validity and accuracy of the analysis method.
