Clinic Study Of Peutz-Jeghers Syndrome And The Screen And Annotation Of Its Related Genes

ObjectPeutz-Jeghers syndrome (PJS) is an unusual polyposis syndrome with pigmentation of the skin and mucous membranes and diffuse gastrointestinal hamartomas, which are the hallmarks of this autosomal dominant inherited condition. The hamartomatous polyps of PJS can cause repeated episodes of abdomen pain, rectal bleeding, and intestinal subocclusion. Repeated laparotomy with extensive small bowel resection and eventual short-bowel syndrome is a major problem in the treatment of PJS patients. Now PJS is recognized as a cancer predisposition and a lot of researches have been done on PJS. Hemminki 和 Jenne reported that PJS is associated with germ-line mutations in the LKB1 gene (19pl3.3) that encodes a multifunctional serine-threonine kinase. These mutations occur in the epithelial component, suggesting a direct tumor suppressor effect. However, only a part of the PJS has mutations in the LKB1 gene, the pathogenesis of PJS is still unclear. Further more , it needs to screen genes related with pathogenesis of PJS. Limited by traditional biological technologies, previous works had been focused on single or a few genes, thus information about pathogenesis of PJS was fragmentary and unsystematic. Further more, it was difficult to reflect the relationships between PJS and related genes. So the key point was to find a technology, through which genes can be analyzed systematically, rapidly, conveniently, accurately, and high through putted. The appearance of microarray made it possible. Microarray technologies provide the means of measuring the expression of thousands of genes or proteins simultaneously. This revolution brings new perspectives for the study of expression...