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- 저자 : YONGXIN ZHU (검색결과 3 건)
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Yingchuan Zhu,Lijun Yang,Tengjiao Ma,Yilu Lu,Dachang Tao,Yunqiang Liu,Yongxin Ma 한국유전학회 2020 Genes & Genomics Vol.42 No.9
Background Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder with no efective treatment, which underscores the importance of avoiding the birth of children with DMD by identifying pathogenic mutations and obtaining an accurate prenatal diagnosis. Objective The objective of this study was to analyze the genetic defect of a Chinese family where all male patients have died of DMD. Methods Multiplex ligation dependent probe analysis (MLPA) and next-generation sequencing (NGS) were employed to detect DMD mutations. The candidate mutations were then validated by Sanger sequencing. In vitro splicing assay was further conducted to examine the potential efect of the novel DMD splice site mutation on splicing. Results We found that two rare DMD mutations c.1318G>A and c.6438+2T>G passed from generation to generation among female carriers and they may be used as genetic markers in the Chinese DMD family. In vitro splicing assay further revealed that the novel classical splice site mutation c.6438+2T>G gave rise to a new donor splice site, which resulted in a frame shift of the transcripts and a premature termination at position 2159 in exon 45 (p.Y2144Nfs*16). Conclusion We found that two co-inherited mutations passed from generation to generation in female carriers and they may be used as genetic markers in the Chinese DMD family. Our fndings not only expanded the DMD mutation spectrum, but also provided an important basis for identifying of female carriers and avoiding the birth of afected male children in this DMD family.
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Wu Na,Zhu Yingchuan,Jiang Wenhao,Song Yue,Yin Lan,Lu Yilu,Tao Dachang,Liu Yunqiang,Ma Yongxin 한국유전학회 2022 Genes & Genomics Vol.44 No.5
Background: NPHS2 is the causative gene of nephrotic syndrome type 2 (MIM 600995) which often clinically manifests as steroid-resistant nephrotic syndrome (SRNS). The NPHS2 gene encodes a slit diaphragm (SD) associated protein podocin. Objective: This study reported a novel disease-causing mutation of NPHS2 in a Chinese family with SRNS. We also investigated the pathogenic mechanism of the variants in this family. Method: A Chinese family with SRNS was recruited. Whole exome sequencing was performed to screen for disease-causing mutation. Sanger sequencing was used to confirm the results. In vitro functional experiments including immunoblotting, co-immunoprecipitation and double immunofluorescence staining were performed to explore the pathogenic mechanisms of mutations. Results: In this family, compound heterozygous mutations of NPHS2 (c.467dupT and c.865A > G) were identified and segregated with the disease. The maternal c.865A > G was a novel variant, leading to amino acid substitution (p.K289E). In vitro functional assays indicated that c.467dupT (p.L156FfsX11) mutant lost interaction with nephrin. Both K289E and L156FfsX11 mutants showed sharply diminished plasma membrane localization. Furthermore, abnormal distribution of podocin mutants also altered the cell membrane localization of nephrin. Conclusion: We reported a family with SRNS caused by compound heterozygous mutations of NPHS2 (c.467dupT and c.865A > G). c.865A > G (p.K289E) in NPHS2 was a novel causative variant associated with SRNS. Both variants in this family not only affected the normal cell membrane localization of podocin, but also altered the cell membrane localization of nephrin which is the major architectural protein of SD.
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BAO WU,GUOGUANG RONG,JUNWEI ZHAO,SHULIN ZHANG,YONGXIN ZHU,BOYONG HE 성균관대학교(자연과학캠퍼스) 성균나노과학기술원 2012 NANO Vol.7 No.6
One third of the world population is estimated to have Mycobacterium tuberculosis infection. It is urgent to develop a rapid, inexpensive and convenient diagnostic method for detection of tuberculosis. Porous silicon material has taken more and more attention in recent years for biosensing applications and some useful results have been obtained. In this paper, we report the feasibility of applying porous silicon microcavity biosensor in a novel and relatively rapid serodiagnostic approach. Nowadays, most of serodiagnostic tests are based on labeled detection. Applying label-free detection methods can help develop fast and e±cient tuberculosis diagnostic tools, which can meet the current demand. In this study, we use this label-free sensing platform (i.e., porous silicon microcavity) to detect the interaction between 16 kDa antigen and anti-16 kDa antibody. Through a series of experiments, we verify the speci¯city and examine the sensitivity of this new diagnostic technique. The results show that it is feasible to apply porous silicon microcavity in the tests of tuberculosis.
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