| 한국인 von Hippel - Lindau 병 환자에서 VHL 유전자의 배선 돌연변이 |
| 신기혁, 박규주, 김수웅, 이상훈, 이상은, 정희원, 김현집, 박재갑 |
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| Germline Mutations of VHL gene in Korean von Hippel - Lindau Disease Patients |
| Ki Hyuk Shin, Kyu Joo Park, Soo Woong Kim, Sang Hoon Lee, Sang Eun Lee, Hee Won Jung, Hyun Jip Kim, Jae Gahb Park |
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| ABSTRACT |
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Von Hippel-Lindau(VHL) disease is an autosomal dominant disease characterized by development of different tumors in diverse organs, including hemangioblastoma of the central nervous system, renal cell carcinoma, pheochromocytoma, and pancreatic tumors. The gene responsible for this disease, the VHL gene, was recently cloned and germline mutations of this gene identified in patients with VHL. Using polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP) analysis followed by DNA sequencing, we were able to identify germline mutations of the VHL gene in two unrelated Korean patients exhibiting typical clinical features of the VHL disease. The mutations identified were 2 base pair deletion at codon l79 in one patient, and a missense mutation at codon 190 in the other. Identification of the germline mutation in VHL gene aids in the accurate presymptomatic diagnosis of the at-risk family members of these patients. |
| Key words:
von Hippel-Lindau disease, VHL gene, Germline mutatian |
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