Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica ›› 2006, Vol. 28 ›› Issue (6): 799-802.

• Original Articles • Previous Articles     Next Articles

RET Gene Cys 634 Trp Mutation in a Multiple Endocrine Neoplasia Type 2A Kindred

NING Zhi-wei, WANG Ou, PEI Yu, MENG Xun-wu, XING Xiao-ping,
XIA Wei-bo,LI Mei, ZHOU Xue-ying, ZENG Zheng-pei

  1. Department of Endocrinology, PUMC Hospital, CAMS and PUMC, Beijing 100730, China
  • Received:2006-03-06 Revised:1900-01-01 Online:2006-12-30 Published:2006-12-30
  • Contact: NING Zhi-wei

Abstract: ABSTRACT: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 RET gene. 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 arised in heterozygosis and caused a substitution of Cys to Trp residue at codon 634 (Cys 634 Trp) in RET protein. Conclusion The genotype of the family is identified as Cys 634 Trp substitution of RET gene.

Key words: multiple endocrine neoplasia type 2, dyperparatdyroidism, medullary tdyroid carcinoma, pdeocdromocytoma, ret, cene mutation