| Peutz-Jeghers syndrome(PJS) is an autosomal dominant disorder characterized by multiple hamartomatous polyps of gastrointestinal tract, muco-cutaneous pigmentation and increased risk of malignancies in different organs. PJS carries an overall risk of cancer that maybe up to 15 times that of general population.Germline mutations in the STK11 (serine/threonine kinase 11) gene are known to cause Peutz-Jeghers syndrome.A loss of a serine/threonine kinase activity is responsible for multiple hamartomatous polyps of gastrointestinal tract and neoplasias in different organs. Several studies have shown that mutation detection rates in the STK11 gene vary between 50% and 70%.There may be other genes involed in progression of PJS.Aims: To study the mutations in exon 6,exon 8 of STK11 gene and the significance of APC,NGAL,COX-2 in hamartomatous polyps from patients with Peutz-Jeghers syndrome.Methods:1.Twenty-eight gastrointestinal polyps were obtained from 24 patients with PJS.Twenty normal colorectal tissues were obtained from 20 health adults.DNA extraction from tissue was performed as described in manual of HQ&Q DNA kit. DNA samples were amplified for SSCP analysis of exon 6,exon8 of STK11 gene. When abnormal bands were detected in the SSCP analysis, the same DNA samples were amplified by PCR, and then subjected to direct sequencing. 2.Screening related genes of PJS polyps by using gene chip. 3. Immunohistochemistry for APC,NGAL and COX-2 was performed as described in manual of immunohistochemistry kit.Paraffin sections of 28 hamartomas of 24 patients with PJS , 23 patients with colorectal carcinoma and 20 persons with normal mucosa were examined using SP. Positive cells were detected under light microscope.We used Chi-Square tests to evaluate the significance of positive rate among the three different groups.Results:1.Two patients of one family had One T deletion at nucleotide 857 in exon 6 of STK11 gene. No mutations were detected in exon 8 of STK11 gene from...
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