دورية أكاديمية
[Analysis of PKD2 gene variant and protein localization in a pedigree affected with polycystic kidney disease].
| العنوان: | [Analysis of PKD2 gene variant and protein localization in a pedigree affected with polycystic kidney disease]. |
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| المؤلفون: | Cheng J; Shanxi Medical University Graduate School, Taiyuan, Shanxi 030001, China. zya655903@163.com., Li P, Li Y, Zhou Y, Ren R, Han Y, Li X, Li Z, Bai Y |
| المصدر: | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jan 10; Vol. 38 (1), pp. 47-51. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | Chinese |
| بيانات الدورية: | Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University Original Publication: Chengdu : Hua xi yi ke da xue, |
| مواضيع طبية MeSH: | Frameshift Mutation* , Polycystic Kidney, Autosomal Dominant*/genetics , Polycystic Kidney, Autosomal Dominant*/physiopathology , Protein Kinases*/genetics, DNA Mutational Analysis ; Female ; HEK293 Cells ; HeLa Cells ; Humans ; Male ; Pedigree ; Protein Kinase D2 ; Protein Transport/genetics ; Exome Sequencing |
| مستخلص: | Objective: To detect the mutation site in a pedigree affected with autosomal dominant polycystic kidney disease (ADPKD) and verify its impact on the protein function. Methods: Peripheral blood samples were collected from the proband and his pedigree members for the extraction of genomic DNA. Mutational analysis was performed on the proband through whole-exome sequencing. Suspected variant was verified by Sanger sequencing. A series of molecular methods including PCR amplification, restriction enzyme digestion, ligation and transformation were also used to construct wild-type and mutant eukaryotic expression vectors of the PKD2 gene, which were transfected into HEK293T and HeLa cells for the observation of protein expression and cell localization. Results: The proband was found to harbor a c.2051dupA (p. Tyr684Ter) frame shift mutation of the PKD2 gene, which caused repeat of the 2051st nucleotide of its cDNA sequence and a truncated protein. Immunofluorescence experiment showed that the localization of the mutant protein within the cell was altered compared with the wild-type, which may be due to deletion of the C-terminus of the PKD2 gene. Conclusion: The c.2051dupA (p. Tyr684Ter) mutation of the PKD2 gene probably underlay the pathogenesis of ADPKD in this pedigree. |
| المشرفين على المادة: | 0 (Protein Kinase D2) EC 2.7.- (Protein Kinases) |
| تواريخ الأحداث: | Date Created: 20210110 Date Completed: 20210125 Latest Revision: 20221207 |
| رمز التحديث: | 20240628 |
| DOI: | 10.3760/cma.j.cn511374-20191204-00619 |
| PMID: | 33423257 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1003-9406 |
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| DOI: | 10.3760/cma.j.cn511374-20191204-00619 |