Investigation Of The Mutation Of RET Proto-oncogene In A Pedigree With Multiple Endocrine Neoplasia 2a

Objective To detect the mutations of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia 2a(MEN 2a).Methods: Peripheral blood was collected and total genomic DNA was prepared for polymerase chain reaction(PCR) in 8 family members. PCR products of the RET proto-oncogene were purified, direct DNA sequence analysis was performed in one propositus(exon 11 and exon 10) and 7 family members(exon 11).Results: A missense mutation of TGC(Cys) to CGC(Arg) at colon 634 in exon 11 of the RET proto-oncogene was detected in the 2 patients with MTC. There were corresponding mutations found in another 5 family members. Conclusions: The point mutation at colon 634 in exon 11 of the RET proto-oncogene is the molecular pathological basis of this MTC family. The genetic analysis not only provides a molecular basis for early diagnosis of multiple endocrine neoplasia(MEN), but also is helpful in predicting the rids of gene carriers in the family members.