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散发性Peutz-Jeghers综合征患者LKB1基因突变情况 被引量：1

LKB1 gene screening in sporadic Peutz-Jeghers syndrome
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摘要 目的研究LKB1基因突变和甲基化在散发性Peutz-Jeghers综合征(P-J综合征)患者中的作用。方法提取5例散发性Peutz-Jeghers综合征患者外周血和其中3例的大肠息肉组织DNA,采用PCR法分析其序列的突变情况,MSP法检测基因启动子区域甲基化情况。结果在所有患者外周血和大肠息肉组织DNA中均未发现有病理意义的突变位点,在1例发生癌变的息肉组织DNA中检测到LKB1基因的甲基化。结论并非所有P-J综合征的患者都出现LKB1基因的序列突变,P-J综合征的发病可能存在其他的分子机制,但甲基化状态的改变可能是其息肉发生癌变的机制。 Objective To investigate the frequency of LKB1 gene mutations and methylation in sporadic Peutz-Jeghers patients. Methods DNA was extracted from peripheral blood and intestinal polyps. PCR-sequcencing and MSP were used to screen patients LKB1 gene mutations and methylation as well. Results （ 1 ） No pathogenic LKB1 gene mutations were found in all 5 sporadic Peutz-Jeghers patients. （2） Promoter methylation was found in carcinomatous polyps of 1 patient. Conclusions （1） LKB1 gene germline mutation may not be the only molecular pathogen of sporadic Peutz-Jeghers syndrome. （2） Methylation in LKB1 gene promoter region may cause carcinomatous change in intestinal polyps.
作者 潘键 王婷婷 刘炯 马国建 张元颖 朱明 张晓梅
机构地区 南京医科大学附属南京儿童医院消化科 江苏省肿瘤医院放疗科 南京军区南京总医院消化科 江苏省肿瘤医院遗传与分子生物学研究室
出处 《中国肿瘤外科杂志》 CAS 2012年第3期142-144,158,共4页 Chinese Journal of Surgical Oncology
基金 江苏省肿瘤医院重点课题(ZK200902) 南京军区南京总医院科研基金(2009M002)
关键词 Peutz—Jeghers综合征 LKB1基因 基因突变 甲基化 Peutz-Jeghers syndrome LKB1 gene gene mutation methylation
分类号 R735 [医药卫生—肿瘤]
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参考文献12

  • 1Yang HR, Ko JS, Seo JK. Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome[ J]. Dig Dis Sci, 2010, 55 (12) :3458-3465.
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二级参考文献9

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中国肿瘤外科杂志
2012年 第3期

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