Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 320-322, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-263786
ABSTRACT
<p><b>OBJECTIVE</b>To screen the mutations of RET proto-oncogene in sporadic patients with pheochromocytoma.</p><p><b>METHODS</b>Forty-two cases of sporadic pheochromocytoma were tested for mutations of RET gene. Of these 42 DNA samples, 12 were extracted from peripheral blood cells and 30 from paraffin-embedded pheochromocytoma specimens. The PCR product of exon 10 and exon 11 was used to molecular analysis of the RET proto-oncogene.</p><p><b>RESULTS</b>Among 42 patients, 2 were found to have RET gene mutations. One of mutations located at codon 634 (TGC>TAC) in exon 11 of RET proto-oncogene. Another one located at codon 632 (GAG>AAG).</p><p><b>CONCLUSION</b>Some patients with apparently sporadic pheochromacytoma were carrier of mutations, a routine genetic analysis for mutations of RET gene is indicated for these patients.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pheochromocytoma
/
DNA Mutational Analysis
/
Base Sequence
/
China
/
Genetic Testing
/
Polymerase Chain Reaction
/
Adrenal Gland Neoplasms
/
Genetic Predisposition to Disease
/
Asian People
/
Diagnosis
Type of study:
Diagnostic study
/
Screening study
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article
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