[RET gene cys 634 trp mutation in a multiple endocrine neoplasia type 2A kindred].
OBJECTIVE
To identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred.


METHODS
Genome 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.


RESULTS
No 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.


CONCLUSIONS
The genotype of the family is identified as Cys 634 Trp substitution of RET gene.
Ning
Zhi-wei
ZW
Department of Endocrinology, PUMC Hospital, CAMS and PUMC, Beijing 100730, China. ningzhiwei@medmail.com.cn
Wang
Ou
O
Pei
Yu
Y
Meng
Xun-wu
XW
Xing
Xiao-ping
XP
Xia
Wei-Bo
WB
Li
Mei
M
Zhou
Xue-ying
XY
Zeng
Zheng-pei
ZP
D000328:Adult; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*
D051096:Proto-Oncogene Proteins c-ret