Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma.
- Author:
Da-hai ZHOU
1
;
Yang-min WANG
;
Tian LAN
;
Yong-chao DONG
;
Bin ZHANG
;
Wei-ping LI
;
Wen-qiang MA
;
De-hui CHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adrenal Gland Neoplasms; diagnosis; ethnology; genetics; Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child; China; DNA Mutational Analysis; Family Health; Female; Genetic Testing; Humans; Male; Mutation; Pedigree; Pheochromocytoma; diagnosis; ethnology; genetics; Polymerase Chain Reaction; Von Hippel-Lindau Tumor Suppressor Protein; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2007;24(4):365-368
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the VHL gene mutations in a Chinese family with nonsyndromic pheochromocytoma.
METHODSMutations of VHL gene were detected in a Chinese family with nonsyndromic pheochromocytoma. Five patients and fifteen relatives were involved in this study. Peripheral blood was collected and total genomic DNA was prepared for polymerase chain reaction (PCR). PCR products of all the three exons of VHL gene were purified and a direct gene sequence analysis was performed.
RESULTSAll the five patients presented a codon 125 from Histidine (H) to Proline (P) change at nucleotide 587 (A --> C) in exon 2. Seven members of fifteen relatives were carriers with the same VHL gene mutation. Two carriers were detected with bilateral adrenal tumors and right renal cyst respectively by ultrasonic inspection.
CONCLUSIONThe novel VHL gene mutation detected in this kindred may be the causative gene. Genetic test can detect the carriers in an early period. It is recommended as a routine method of genetic test in nonsyndromic pheochromocytoma patients.
