fish临床诊断技术规范的建立及其应用遗传学专业论文.docxVIP

(2)本研究按照建立的FISH临床诊断技术规范可应用于常见染色体 (2)本研究按照建立的FISH临床诊断技术规范可应用于常见染色体 非整倍体的快速产前诊断、染色体平衡易位携带者PGD、异常染色 体核型鉴定等临床检测。其成本低廉、技术稳定、结果准确，相关指 标达到国际标准。 关键词：FISH，植入前遗传学诊断，产前诊断，核型鉴定 Ⅱ ABSTRACTobjective：(1)To ABSTRACT objective：(1)To establish FISH(Fluorescent／n situ hybridisation) diagnostic criterions for clinic use the technical basis of laboratory after further opitimezed and standardized．(2)Apply the FISH diagnostic technique criterions to prenatal diagnosis for aneuploid of common chromosome，PGD(preimplantation genetic diagnostic)for carriers with chromosome translocation，and identification of abnormal karyotype． Methods：(1)Reference of the criterions of FISH applied to clinic diagnosis was recommend by the following organization：American College of Medical Genetics，College of American Pathologists， Children’S Hospital of Philadelphia，European Society of Human Reproduction and Embryology，Preimplantation Genetic Diagnosis International Society and Nagasaki University Graduate School of Biomedical Science．A set of integrity technological and system criterions was made considering the experiment condition and technology achieved by our lab．(2)We optimize and standardize experimental technology on the basis of the prior technology and institutional norms，and establish nSH technology system for clinical diagnosis．Peripheral blood lymphocytes or lymphocyte lines from normal individuals and carriers with abnormal chromosome karyotype，amniotic fluid cells from pregnant woman wim 11igh risk pregnancy，and discarded blastomere ceils after IVF／ICSI from normal karyotype couples were used．(3)We apply this criterions and guidelines in fast prenatal diagnosis of common chromosome aneuploidy，preimplantation genetic diagnosis of translocation chromosome carrier，and identifying abnormal karyotype． Results： (1)We have successfully established HSH technology criterions for clinical diagnosis．These criterions Can be applied to the national centres for the reproductive，pr