Detection of the RET proto-oncogene in a family with multiple endocrine neoplasia type 2A syndrome / 中华内分泌代谢杂志

ABSTRACT

Objective To detect mutations of the RET proto-oncogene in a family with multiple endocrine neoplasia type 2A (MEN2A). Methods Nineteen family members were recruited in the study. The phenotype of the members with MEN2A were observed. PCR was performed to amplify exans 10 and 11 of the RET proto-oncogene. The PCR products were purified and a direct DNA sequence analysis was performed. Results The Cys (TGC)634Arg(CGC) missense mutation and Gly( GGT)691Ser(AGT) in exon 11 of the RET proto-oncogene were both detected in four members of the family. Only the pelymorphism Gly691Ser in exon 11 of the RET proto-oncogene was detected in one member. The results of the ultrasound examination were shown as follows: two members with bilateral thyroid, one side of parathyroid and adrenal solid lesions; one member with bilateral thyroid and one side of adrenal solid lesions; one member with bilateral thyroid and adrenal and one side of parathyroid solid lesions; and one member with multiple thyroid small nodules. Additionally, another three members with abnormal findings on ultrasound examinations had no gene mutation. Conclusion Analysis of RET gene identifies a TGC to CGC mutation at codan 634 and the polymorphism Gly691 Set in exon 11 in this family with MEN2A. Direct DNA sequencing analysis is useful in diagnosis of MEN2A at gene level.