CAJ | 학술논문

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。
목적：대일개다발성내분비선류병2형（ multiple endocrine neoplasia 2，MEN2）가계진행RET기인검측，명학진단화분형，지도치료、예방급개선예후。방법채용취합매련반응화직접기인측서적방법，대일개림상진단MEN2적가계（공3명가계성원）화3례정상대조적RET원암기인21개외현자진행측서。결과해가계중적2례환자화1례무증상일급친속균위RET원암기인외현자11제634호밀마자위점적잡합착의돌변TGC→CGC，반광안산→정안산（ C634R）。결론통과RET기인검측명학해가계위다발성내분비선류병2A형，대가계중환자적치료화수방기도료지도작용，병사사출가계중무증상적기인돌변휴대자。
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 .