中国人Peutz-Jeghers综合征STK11基因突变的研究  

STK11 Gene Mutation in Chinese with PJS

作　　者：李宜雄[1,2] 吕新生[1,2] 夏家辉[1,2] 汤熙翔[1,2] 刘春宇[1,2] 施小六[1,2] 

机构地区：[1]湖南医科大学附属湘雅医院普外科 [2]湖南医科大学中国医学遗传学国家重点实验室

出　　处：《中华医学杂志》1999年第6期425-427,共3页National Medical Journal of China

摘　　要：目的对中国人ＰｅｕｔｚＪｅｇｈｅｒｓ（ＰＪ）综合征患者ＳＴＫ１１基因进行突变分析，确定其特征，为基因诊断奠定基础。方法应用聚合酶链反应单链构象多肽分析（ＰＣＲＳＳＣＰ）和ＤＮＡ测序的方法，对８个中国人ＰＪＳ家系ＳＴＫ１１基因进行研究。结果在两个家系中分别新发现一个终止突变和剪接位点突变，推测最终导致产生截短型蛋白。结论ＳＴＫ１１基因在中国人ＰＪＳ患者中可能以点突变为主，突变发生率较国外报道低。提示，ＰＪＳ可能有遗传异质性。Objectives To understand the mutation characteristic of STK11 gene in Chinese with Peutz Jeghers syndrome and establish the gene diagnosis of PJS. Methods STK11 gene was analysed by PCR SSCP and DNA sequencing in 8 Chinese pedigrees with PJS. Results Two novel point mutations of STK11 gene were detected in two pedigrees: one was nonsense in exon1, and another mutation occurred in splice spot in the donor site of intron 1. It was estimated that these mutations would lead to produce truncated protein. Conclusion Point mutation in STK11 may be chief in Chinese with PJS and the frequency of mutation was fewer than that in previous reports. It suggested that there may be genetic heterogeneity in PJS.

关 键 词：P-J综合征 STK11基因 基因突变 聚合酶链反应 

分 类 号：R596.1[医药卫生—内科学]