دورية أكاديمية
VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma.
| العنوان: | VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma. |
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| المؤلفون: | Zhang B; Department of Urology, Lanzhou General Hospital of Lanzhou Command, Lanzhou, Gansu, China E-mail : 2378914218@qq.com., Qian J, Chang DH, Wang YM, Zhou DH, Qiao GM |
| المصدر: | Asian Pacific journal of cancer prevention : APJCP [Asian Pac J Cancer Prev] 2015; Vol. 16 (5), pp. 1977-80. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Asian Pacific Organization for Cancer Prevention Country of Publication: Thailand NLM ID: 101130625 Publication Model: Print Cited Medium: Internet ISSN: 2476-762X (Electronic) Linking ISSN: 15137368 NLM ISO Abbreviation: Asian Pac J Cancer Prev Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Bangkok : Asian Pacific Organization for Cancer Prevention, |
| مواضيع طبية MeSH: | Adrenal Gland Neoplasms/*genetics , Asian People/*genetics , Carrier Proteins/*genetics , Genetic Predisposition to Disease/*genetics , Mutation/*genetics , Pheochromocytoma/*genetics, Adolescent ; Adult ; Child ; Cytoskeletal Proteins ; DNA Mutational Analysis/methods ; Female ; Genetic Testing/methods ; Humans ; Male ; Middle Aged ; Molecular Chaperones ; Pedigree ; Young Adult ; von Hippel-Lindau Disease/genetics |
| مستخلص: | Objective: The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system hemangioblastoma (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and renal cysts, is caused by mutations or deletions of the VHL tumor-suppressor gene. To assess VHL genotype-phenotype correlations with function of pVHL a gene mutation analysis of members in a Chinese family with non-syndromic PCCs and individuals with apparently sporadic pheochromocytoma (ASP) was performed. Materials and Methods: DNA samples of 20 members from the Chinese family with non-syndromic PCCs and 41 patients with ASP were analyzed by polymerase chain reaction and direct sequencing, confirmed by Taqman probe. Results: Three novel mutations (H125P, 623(?TTTGTtG) and R120T) were identified in the Chinese family and in 3 among 41 ASP patients. The mutations were all located in exon 2 of VHL gene encoding β-domain of pVHL. The tumor type in H125P carriers and R120T carriers was VHL type 2C. And 623(?TTTGTtG) carriers presented VHL type 2B or type 2C. Conclusions: VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL. H125P and R120T could be associated with VHL type 2C, while 623(?TTTGTtG) might be linked with VHL type 2B or type 2C. Not only is the genetic analysis helpful for early diagnosis and treatment of patients with VHLD, it is also benefitial for research into VHLD pathogenesis. |
| المشرفين على المادة: | 0 (Carrier Proteins) 0 (Cytoskeletal Proteins) 0 (Molecular Chaperones) 0 (VBP1 protein, human) |
| تواريخ الأحداث: | Date Created: 20150317 Date Completed: 20151203 Latest Revision: 20221207 |
| رمز التحديث: | 20240829 |
| DOI: | 10.7314/apjcp.2015.16.5.1977 |
| PMID: | 25773797 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2476-762X |
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| DOI: | 10.7314/apjcp.2015.16.5.1977 |