Studies On The SOX4 Gene Mutation And Sequence Analysis In Gastric Cancer

SOX(SRY-related HMG-box) gene family are closely related with SRY/Sry gene, which code transcription factors. All of their products have an conservative HMG-box motif, which can bind with specific DNA sequence, and participate in differdent development regulating processes. As SOX genes join in sex-determining, bone development, blood cell generation, nervous system and lens development, their mutation, loss or abnormal expression can cause dysplasia or serious diseases. In this paper, the first chapter reviewed the researches progress of SOX genes in recent years and the connection of their mutation or abnormal expression with human deseases. Although the molecular mechanism of gastric cancer has not been revealed, some genes have been confirmed to join in the cancer development and applicated in diagonis.The second chapter reviewed the molecular genetics researches of gastric cancer.The relationship of SOX4 and gastric carcinoma has been attentioned in recent years. The transcriptional regulating function of SOX4 in organ development and differentiation is directedly related to the expression of protein, so its mutation may lead to regulating obstruction, and cancer's generation or development. With PCR-SSCP technique, this paper studies 27 fresh gastric cancer samples,which 3 of them are in early stage,10 in middle stage,14 in late stage.Then, we found that 12 of them have mutations,taking up 44% of the total. of which 2 samples are in middle stage and 10 samples are in late stage. The mutations all occured in middle and late stage samples. The early stage samples and the control gastric caners have not mutations. According to the mutation numbers,we divided them into A, B, C and D types.A type has 7 point mutations(5 samples). B type has 6 point mutations (3 samples), C type has 4 point mutations (3 samples) and D type has 2 point mutations(1sample). Acid amino alignment shows that the most mutations of gastric cancer are mis-sense mutations, few ones are synonymous mutations. Most of the mutations occurred in regulating domain down to the HMG-box,only 2 sites in HMG-box.The mutations have same sites in middle and late stage samples. The results revealed that SOX4 mutations are associated with gastric cancer,which is possible a late accident in gastric cancer. on the one hand SOX4 mutations are added with cancer development, on the other hand, SOX4 mutations conduce or improve the cancer development and transfer.The mechanism of SOX4 mutation and gastric cancer still needs to research deeply.