摘要
目的探讨多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)患者的临床特征及其家系MEN1基因突变的情况。方法回顾性分析1例MEN1患者及其7名家系成员的临床资料。抽取先证者(MEN1患者)及其大伯、父亲、大哥、妹妹、侄子、大女儿、小女儿的外周抗凝血5mL,采用标准的酚/氯仿抽提法提取人血白细胞基因组DNA,运用聚合酶链式反应(PCR)、DNA测序分析技术检测MEN1基因的9个外显子。结果先证者(MEN1患者)及其父亲、大哥均为MEN1患者,大女儿、侄子均为MEN1基因突变携带者,大伯、妹妹及小女儿MEN1基因检测均未见异常。基因序列测序结果显示,正常人的终止密码子为TGC,而MEN1患者位于第10号外显子上第1 227位的核苷酸发生了C>A的杂合突变,终止密码子TGA提前出现,menin蛋白截短,MEN1基因突变。结论 MEN1基因检测不仅对患者的诊断具有重要的意义,也为患者亲属的早期诊断和临床干预提供了可靠的依据。
Objective To explore the clinical features of multiple endocrine neoplasia type 1（MEN1） and the mutation of MEN1 gene in the family.Methods Clinical data from 1 patient with MEN1 and other 7 family members were analyzed retrospectively.Peripheral blood samples（5 mL） were collected from the patient and his uncle,father,brother,sister,nephew,eldest daughter and youngest daughter,and genomic DNA was extracted from leukocytes by phenol/chloroform extraction.The 9 exons of MEN1 gene were analyzed by PCR and DNA sequencing.Results The proband and his father and brother had MEN1.The proband＇s eldest daughter and nephew were carriers of MEN1 gene mutation.No abnormalities in MEN1 gene were found in the proband＇s uncle,sister and youngest daughter.In normal subjects,stop codon TGC was located in exon 10.In MEN1 patients,CA heterozygous mutation occurred at 1 227 nucleotides and resulted in a premature stop codon TGA,which leaded to menin protein truncation and MEN1 gene mutation.Conclusion Genetic testing for MEN1 has important implications for early diagnosis and clinical intervention in MEN1 patients and their families.
出处
《南昌大学学报（医学版）》
CAS
2013年第3期99-102,106,共5页
Journal of Nanchang University：Medical Sciences
