ATM Gene Mutation In Human Endometrial Cancinoma

Objective The endometrial carcinoma is one of the female and common malignant tumrs. The incidence of endometrial carcinoma lines the fourth after mammary glands cancer, lung cancer, rectum cancer, account for 20%-30% of female procreant system malignant tumor in China. The outbreak rate of the endometrial carcinoma is much different from one region to others in the world. North America and North Europe region is high but Middle South America and Asia is low oppositely . Near 20 years the outbreak ages of the endometrial carcinoma patient was lingering but the outbreak rate was reported the ascending trend. Recent years,the research of basic and clinical in the endometrial carcinoma have gotten the biggish evolvement.The study of molecule biology of the endometrial carcinoma emphasize particularly on gene mutation and growth adjust.Ataxia Telangiectasia Mutated Gene(ATM gene) is a gene which could cause ataxia telangectasia-a kind of rare disease of autosomal recessive inheritance. The main character of A-T syndrome is ataxia and telangiectsia , sensitivity to radiate.lacuna of immunity system and the bigger ability to suffer from tumour. This task research the ATM gene to found the gene mutation of ATM gene. Separating and authenticating related gene of the endometrial carcinoma could illustrate the origin mechanism and bring on the birth of the policy to defend and keep within limits the origin and development of endometrial carcinoma. Methods Up to now,there are more than 300 kinds gene mutation had been discovered. More than 100 kinds of gene mutation were found in different kinds of tumour patients whom with no A-T and it's cell lines.The style of that are mainly base replace,small segment miss and insert. These gene mutation distributing in all over the whole coding section of ATM gene. Every Exon exist the gene mutated site and no obvious hot mutated site be discovered. Because of the genome of ATM is gigantic,we select 10 exons to research.These exons which have more frequency from databank and literature are exon8,12,17,23,33,38,41,51,60,65. Denature high performanceliquid chromatography (DHPLC)is a sort of new sensitive effective means to inspect gene mutation which had managed to check many other disease interfix gene triumphantly . Aim at such enormons genome as ATM and it's mainly mutated manner in tumour,DHPLC would be a better policy to inspect tumation.We use DHPLC technique to check 30 cases exemplars'ATM gene of endometrial carcinoma ,by way of DNA sequencing ,to find mutation frequency and mutation manner of ATM gene in endometrial carcinoma. 30 cases exemplars of endometrial carcinoma take from zhengzhou university hospital,puyang city hospital ang zhongyuan oil field employee hospital.Experirnent methods include the DNA preparation of endometrial carcinoma tissues, RNA preparation,protein preparation, PCR expand,DHPLC analyse and DNA sequencing etc. Results In this study.we check 10 exons and 2 cDNA segment of 30 cases ATM gene of endometrial carcinoma.The primer contain about 18 exons of all the ATM gene. DHPLC identified that 3 cases exemplars exist ATM gene mutation (10%).These masculine exemplars via DNA sequencing to confirm the site and style of gene mutation.The result of sequencing is compared to HSU33841 of ATM list of GeneBank.DNA sequencing make sure that there is a single base lack in these gene mutation,others are base replace,include transition and transversion. One mutation site locate 8684G-G/A,the transition.This mutation bring on 2832 Arg- His .Due to this site lie P13 section,we may conjecture this mutation could affect the function of ATM protein. Other mutation site is 9389 C-G Conclusion Mutations of ATM gene are existed in endometrial carcinoma,which might be associated with an increased risk of endometrial carcinoma.