一个多发性内分泌腺瘤病2型家系的RET 基因检测

目的：对一个多发性内分泌腺瘤病2型（ multiple endocrine neoplasia 2，MEN2）家系进行RET基因检测，明确诊断和分型，指导治疗、预防及改善预后。方法采用聚合酶链反应和直接基因测序的方法，对一个临床诊断MEN2的家系（共3名家系成员）和3例正常对照的RET原癌基因21个外显子进行测序。结果该家系中的2例患者和1例无症状一级亲属均为RET原癌基因外显子11第634号密码子位点的杂合错义突变TGC→CGC，半胱氨酸→精氨酸（ C634R）。结论通过RET基因检测明确该家系为多发性内分泌腺瘤病2A型，对家系中患者的治疗和随访起到了指导作用，并筛查出家系中无症状的基因突变携带者。

Gene test of RET-proto-oncogene in a Chinese family of multiple endocrine neoplasia type 2

Objective To test the RET-proto-oncogene in a multiple endocrine neoplasia type 2（ MEN2） family for confirming the diagnosis and classification , guiding treatment and prevention , and improving the prog-nosis.Methods There were 2 patients of MEN2 with clinical diagnosis and 1 asymptomatic first-degree relative in the pedigree .PCR and direct gene sequencing of PCR produces were used to scan the entire 21 exons of RET-proto-oncogene in the 3 members of the pedigree and 3 normal controls .Results The 2 patients and 1 asympto-matic first-degree relative in the pedigree all had a mutation of the codon 634 in exon 11.It was a heterozygous missense mutation C634R（TGC → CGC）.The 3 normal controls showed no abnormalities .Conclusion The gene test of RET proto-oncogene helps to confirm the diagnosis of the pedigree as MEN 2, which can guide the treatment and help identify one asymptomatic mutation carrier .