四个中国家系家族性甲状腺乳头状癌HABP2基因G534E位点突变分析

AN ANALYSIS OF HABP2 G534E MUTATION IN FOUR CHINESE FAMILIES WITH FAMILIAL PAPILLARY THYROID CARCINOMA

目的通过分析四个中国家系家族性甲状腺乳头状癌(FPTC)透明质酸结合蛋白2(HABP2)基因G534E位点突变情况,探讨HABP2基因G534E位点突变与FPTC发病的相关性。方法对4个先证者家系中的11例PTC患者及其家系成员的临床特点及实验室资料进行分析,采用PCR技术及Sanger基因测序对先证者及其家系成员进行目的基因的检测。结果在四个家系中,PTC患者、多发性结节性甲状腺肿患者和正常亲属中均未检测到HABP2基因G534E位点的阳性突变。结论HABP2基因G534E位点突变可能不是我国FPTC人群的易感基因,需要进一步验证其他基因位点的突变情况。

Objective To investigate the presence of HABP2 G534E mutation in four Chinese families with familial papillary thyroid carcinoma(FPTC)and the association of HABP2 G534E mutation with the pathogenesis of FPTC.\MethodsThe clinical features and laboratory data of 11 patients and their family members in four families with FPTC were analyzed,and PCR and Sanger sequencing were used to detect the target genes for the probands and their family members.Results No positive HABP2 G534E mutation was found in the patients with FPTC,patients with multiple nodular goiter,and normal relatives in these four families.Conclusion HABP2 G534E mutation might not be a susceptibility gene for FPTC in China and further studies are needed to search for the mutations of other genetic loci.