Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma.
- Author:
Zhan-ying HAN
1
;
Chun-guang QIU
;
Qing-hua CHEN
;
Yu ZHU
;
Ding-liang ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Adrenal Gland Neoplasms; diagnosis; genetics; Adult; Asian Continental Ancestry Group; genetics; Base Sequence; China; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; genetics; Genetic Testing; Humans; Male; Middle Aged; Mutation; Pheochromocytoma; diagnosis; genetics; Polymerase Chain Reaction; Proto-Oncogene Proteins c-ret; genetics
- From: Chinese Journal of Medical Genetics 2006;23(3):320-322
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen the mutations of RET proto-oncogene in sporadic patients with pheochromocytoma.
METHODSForty-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.
RESULTSAmong 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).
CONCLUSIONSome patients with apparently sporadic pheochromacytoma were carrier of mutations, a routine genetic analysis for mutations of RET gene is indicated for these patients.
