RET gene cys 634 trp mutation in a multiple endocrine neoplasia type 2A kindred.
- Author:
Zhi-wei NING
1
;
Ou WANG
;
Yu PEI
;
Xun-wu MENG
;
Xiao-ping XING
;
Wei-Bo XIA
;
Mei LI
;
Xue-ying ZHOU
;
Zheng-pei ZENG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Exons; genetics; Female; Humans; Male; Multiple Endocrine Neoplasia Type 2a; genetics; Pedigree; Point Mutation; Polymerase Chain Reaction; Proto-Oncogene Proteins c-ret; genetics
- From: Acta Academiae Medicinae Sinicae 2006;28(6):799-802
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred.
METHODSGenome DNA was extracted from peripheral blood leucocytes. The DNA sequence of gel-purified polymerase chain reaction (PCR) products was determined with the previously reported 6 pairs of primers of PCR amplification of 10, 11, 13, 14, 15, and 16 exons of RETgene.
RESULTSNo abnormalities were found in exon 10, 13, 14, 15, and 16. C to G replacement in nucleotide 14 996 of exon 11 was identified in DNA samples obtained from both peripheral blood of 2 affected brothers. This missense point mutation arisen in heterozygosity and caused a substitution of Cys to Trp residue at codon 634 ( Cys 634 Trp) in RET protein.
CONCLUSIONThe genotype of the family is identified as Cys 634 Trp substitution of RET gene.
