中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2008年
6期
626-629
,共4页
马彦%张南雁%凌瑞%张雅萍%李晓苗%李德强%贾晓炜%于铭%李晓娟%姬秋和
馬彥%張南雁%凌瑞%張雅萍%李曉苗%李德彊%賈曉煒%于銘%李曉娟%姬鞦和
마언%장남안%릉서%장아평%리효묘%리덕강%가효위%우명%리효연%희추화
多发性内分泌腺瘤病2A型%PET原癌基因%基因突变
多髮性內分泌腺瘤病2A型%PET原癌基因%基因突變
다발성내분비선류병2A형%PET원암기인%기인돌변
Multiple endocrine neoplasia 2A%Proto-oncogene RET%Mutation
目的 检测一个多发性内分泌腺瘤病(MEN)2A型家系中RET原癌基因的突变情况.方法 观察一个MEN2A家系成员的表型,并对与MEN相关的且点突变率较高的RET原癌基因第10和11外显子进行PCR产物直接DNA测序以了解其杂合性.结果 家系中4名家族成员均存在RET原癌基因第11外显子Cys(TGC)634Arg(CGC)错义突变和Gly(GGT)691Ser(AGT)的单核苷酸多态性,另有1名成员仅存在RET原癌基因Gly(GGT)691Set(AGT)的单核苷酸多态性.经B超检查发现其中2名成员双侧甲状腺及一侧肾上腺和一侧甲状旁腺有实性占位病变,1名成员双侧甲状腺及一侧肾上腺有实性占位病变,1名成员双侧甲状腺、双侧肾上腺和一侧甲状旁腺有实性占位病变,1名成员仅有甲状腺多发性小结节.另外有3名成员B超检查有异常,但无基因突变.结论 对MEN2A家系的基因分析证实RET原癌基因第11外显子634位密码子存在突变和(或)691位密码子存在单核苷酸多态性,对MEN2A能在基因水平作出诊断.
目的 檢測一箇多髮性內分泌腺瘤病(MEN)2A型傢繫中RET原癌基因的突變情況.方法 觀察一箇MEN2A傢繫成員的錶型,併對與MEN相關的且點突變率較高的RET原癌基因第10和11外顯子進行PCR產物直接DNA測序以瞭解其雜閤性.結果 傢繫中4名傢族成員均存在RET原癌基因第11外顯子Cys(TGC)634Arg(CGC)錯義突變和Gly(GGT)691Ser(AGT)的單覈苷痠多態性,另有1名成員僅存在RET原癌基因Gly(GGT)691Set(AGT)的單覈苷痠多態性.經B超檢查髮現其中2名成員雙側甲狀腺及一側腎上腺和一側甲狀徬腺有實性佔位病變,1名成員雙側甲狀腺及一側腎上腺有實性佔位病變,1名成員雙側甲狀腺、雙側腎上腺和一側甲狀徬腺有實性佔位病變,1名成員僅有甲狀腺多髮性小結節.另外有3名成員B超檢查有異常,但無基因突變.結論 對MEN2A傢繫的基因分析證實RET原癌基因第11外顯子634位密碼子存在突變和(或)691位密碼子存在單覈苷痠多態性,對MEN2A能在基因水平作齣診斷.
목적 검측일개다발성내분비선류병(MEN)2A형가계중RET원암기인적돌변정황.방법 관찰일개MEN2A가계성원적표형,병대여MEN상관적차점돌변솔교고적RET원암기인제10화11외현자진행PCR산물직접DNA측서이료해기잡합성.결과 가계중4명가족성원균존재RET원암기인제11외현자Cys(TGC)634Arg(CGC)착의돌변화Gly(GGT)691Ser(AGT)적단핵감산다태성,령유1명성원부존재RET원암기인Gly(GGT)691Set(AGT)적단핵감산다태성.경B초검사발현기중2명성원쌍측갑상선급일측신상선화일측갑상방선유실성점위병변,1명성원쌍측갑상선급일측신상선유실성점위병변,1명성원쌍측갑상선、쌍측신상선화일측갑상방선유실성점위병변,1명성원부유갑상선다발성소결절.령외유3명성원B초검사유이상,단무기인돌변.결론 대MEN2A가계적기인분석증실RET원암기인제11외현자634위밀마자존재돌변화(혹)691위밀마자존재단핵감산다태성,대MEN2A능재기인수평작출진단.
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.
