Peutz-Jeghers综合征患者中STK11基因启动子区序列多态性分析

目的:探讨STK11基因启动子-1 543～-1 1 60区域序列变化与Peutz-Jeghers综合征(PJS)的关系.方法:采用PCR产物直接测序的方法,对15例PJS患者和42例正常个体的STK11基因启动子区进行序列分析.结果:发现STK11基因启动子区的1个新的单核苷酸多态性(SNP)位点(-1 275)G/T;该位点GG,GT,TT这3种基因型在患者和正常对照者中的频率分布分别为53.3%,26.7%,20%和33.3%,64.3%,2.4%,PJS患者组GG基因型和TT基因型频率均高于正常对照组,而GT基因型低于正常对照组,差异有统计学意义(x2=8.521,P＜0.05).结论:STK11基因(-1 275)G/T是1个新的SNP,该SNP基因型与PJS发生的关系有待进一步研究.

Sequence polymorphism of the promoter region of gene STK11in patients with Peutz-Jeghers syndrome

OBJECTIVE: To explore the relationship between the sequence variation of the promoter region (-1543 approximately -1160) of STK11 gene and the risk of developing Peutz-Jeghers syndrome (PJS). METHODS: The sequences of the promoter region of 14 PJS patients (7 patients are inherited and the other 7 patients are sporadic) and 42 normal individuals were PCR amplified and then sequenced. RESULTS: A new single nucleotide polymorphism (SNP) G/T (-1275) in STK11 promoter region was identified. The frequency of genotype GG, GT, and TT was 53.3%, 26.7%, and 20%, respectively among PJS patients and 33.3%, 64.3%, and 2.4%, respectively among the normal individuals. The frequency of genotype GG and TT among patients was significantly higher than that among the normal individuals, and the frequency of genotype GT among patients was significantly lower than that among the normal individuals (chi(2)=8.521, P<0.05). CONCLUSION: G/T(-1275) in STK11 promoter region is a new SNP. The genotype of this new SNP may relate to the risk of developing Peutz-Jeghers syndrome (PJS) deserve further research.