Peutz-Jeghers综合征的分子遗传学研究进展

摘要

Peutz-Jeghers综合征(PJS)是一种罕见的常染色体显性遗传性皮肤病.目前认为由位于19p13.3的STK11基因突变所致.随其致病基因的发现,近年来国内外学者对该病进行了深入的研究,本文就近年来的文献对PJS致病基因的搜寻,基因型与表型的相互关系,PJS患者的肿瘤易感性,及其动物模型等方面的研究进展作一综述.%Peutz-Jeghers syndrome(PJS)is a rare autosomal dominant disease caused by germline mutation of the serine threonine kinase 11(STK11)gene located at chromosome 19p13.3.We analyze the currently available literatures to describe the process of the research of gene identification,genotype-phenotype correlations,and the susceptibility of malignancy and animal model in this review.