Clinical Investigation And Gene Analysis Of One Han Chinese Pedigree With Multiple Endocrine Neoplasia Type 2A

Objective To carry out a clinical investigation and gene analysis of one Han Chinese pedigree with multiple endocrine neoplasia type 2A(MEN2A).Methods Carried out a clinical investigation of one MEN2A family,which has 20 members including the proband.The DNAs of the 16 members from the family were extracted from blood leukocytes,PCR and gene sequencing of PCR products by an automated DNA sequencer were applied to scan the exonl0 and 11 of the RET proto-oncogene.Sequencing results were compared with the Pubmed's.Then verifying the novel mutation through the human gene mutation database at the institute of medical genetics in cardif.Invitrogen biotechnology company (Shanghai) provided the technology of gene sequencing.Results 1,The pedigree of this index case had one patient with multiple endocrine neoplasia type 2A, who refused to be phlebotomized for examining;Three doubtful patients had died, so could not have the gene analysis;Genetic screening identified the same mutation in a family member,who then died with chest distress,headache,cold sweat and pallor suddenly at home.2,Fifteen members had normal serum level of calcium,phosphorus,calcitonin and parathormone. 3,A missense mutation of TGC (Cys) to CGC (Arg) at codon 634 in exon 11 of the RET proto-oncogene was detected in the index case and a family member.The other family members hadn't the same mutation.Conclusion The mutation (C634R) is detected in the family with MEN2A. Direct DNAsequencing analysis can diagnose MEN2A at gene level, which is helpful in making clinicalman-agement of the disease and in diagnosing earlier in their offspring.So early RET mutation analysis should be performed routinely in all MEN2A, and screening methods may be used in analyzing familymembers at risk.