[Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma].
OBJECTIVE
To detect the VHL gene mutations in a Chinese family with nonsyndromic pheochromocytoma.


METHODS
Mutations 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.


RESULTS
All 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.


CONCLUSIONS
The 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.
Department of Urology, Lanzhou General Hospital of PLA, Lanzhou, Gansu, 730050 P. R. China.
Da-hai
DH
Zhou
Yang-min
YM
Wang
Tian
T
Lan
Yong-chao
YC
Dong
Bin
B
Zhang
Wei-ping
WP
Li
Wen-qiang
WQ
Ma
De-hui
DH
Chang
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010673:Pheochromocytoma / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D055815:Young Adult
D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human