Primary Research Of Preimplantation Genetic Diagnostic Technique For Marfan Syndrome

Background With the development of molecular biology, genetics and reproductivemedicine, the third generation of in vitro fertilization technology is coming. ThePre-implantation genetic diagnosis is evolving rapidly and it has been applied in clinicalpractice widely. It is not only fulfilled the infertile couples’ dream about given birth to achild, but also give them a healthy baby. Marfan syndrome, an autosomal dominantgenetic disease, is a systemic disorder of connective tissue with a high degree of clinicalvariability. Cardinal manifestations involve the ocular, skeletal, and cardiovascularsystems. The children of an individual with Marfan syndrome are at50%risk ofinheriting the mutant allele and the disorder.Objective To establish the primary system of Pre-implantation genetic diagnosis inMarfan syndrome.Methods Amarfan syndrome patient’s family was investigated. The MDAof wholegenome amplification was apply on peripheral blood mononuclear cell from the marfansyndrome patient, blastomere and oocyte which donated by the infertile couples withoutaffected by the MFS. PCR and sequencing was used in the WGA product to analysis themutation. Located the polymorphism markers linked with the mutation through theanalysis of single sperm.Result1.The marfan syndrome patient is a de novo mutation.2. The mutation could berecognized from the single peripheral blood mononuclear cell after WGA and PCRwhile the objective mutation could not be found in the blastomere and oocyte.3. TheSNP locus from the patient and the STR locus(D15S123，D15S978and D15S1028)could be used as the polymorphism markers linked with the mutation.Conclusion1. From the family investigation, the marfan syndrome patient is highlypossible a de novo mutation caused.. The polymorphism markers of a de novo mutationshould be find by haplotype analysis.2. In this study, we have established the basictechnique of Pre-implantation genetic diagnosis for Marfan syndrome by multipledisplacement amplification, PCR and linked polymorphism markers analysis.3.Microsatellites marker(STR) and single nucleotide polymorphisms(SNP) could be used in the Pre-implantation genetic diagnosis for Marfan syndrome as polymorphismmarkers.