Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 365-368, 2007.
Article
in Chinese
| WPRIM
| ID: wpr-247315
ABSTRACT
<p><b>OBJECTIVE</b>To detect the VHL gene mutations in a Chinese family with nonsyndromic pheochromocytoma.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Pheochromocytoma
/
DNA Mutational Analysis
/
Base Sequence
/
China
/
Genetic Testing
/
Polymerase Chain Reaction
/
Family Health
/
Adrenal Gland Neoplasms
/
Asian People
Type of study:
Diagnostic study
/
Screening study
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2007
Type:
Article
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