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口周色素沉着—肠道息肉综合征(PJS)是一种少见的常染色体显性遗传性疾病。以胃肠道错构瘤息肉和口腔黏膜、手、足和唇部色素沉着为特征。STK11基因的胚系突变是PJS的主要致病因素,定位于染色体19p13.3,编码丝氨酸/苏氨酸蛋白激酶。STK11基因是一种抑癌基因,目前研究显示STK11基因主要是通过对细胞周期的阻滞作用和对细胞凋亡的促进作用抑制肿瘤的发生。到目前为止,在人类基因突变数据库(HGMD)中,已经报道了145种PJS患者STK11基因的胚系突变及40种体细胞突变。其突变研究有待于进一步深入。
Perioral pigmentation - Intestinal polyposis syndrome (PJS) is a rare autosomal dominant genetic disease. Gastrointestinal hamartoma polyps and oral mucosa, hand, foot and lip pigmentation is characterized. The germline mutation of STK11 gene is the main causative agent of PJS and locates on chromosome 19p13.3 and encodes serine / threonine protein kinase. STK11 gene is a tumor suppressor gene, the present study shows that STK11 gene mainly through the inhibition of the cell cycle and the role of apoptosis in promoting the inhibition of tumorigenesis. So far, in the human genetic mutation database (HGMD), the germline mutations and 40 somatic mutations of the STK11 gene in 145 PJS patients have been reported. The mutation research needs to be further deepened.