A Comprehensive Genetic Evaluation In Preimplantation Genetic Diagnosis Through High-density SNP Microarray

This project was put forwards in the consideration of the increasing practice of InVitro Fertilization (IVF) which may associate with higher risk of birth defectscompared with nature birth, and limited ability to bring about live birth.Preimplantation genetic diagnosis (PGD), performed on eggs or embryos during anIVF cycle prior to achievement of a pregnancy, enables the generation and transfer offewer but better embryos.The current practice for genetic evaluation in PGD typically employs PCR andfluorescent in situ hybridization (FISH) for the detection of single gene mutations andlimited resolution of chromosomal aberrations. To put together a comprehensivegenetic picture of embryos, we use the Single Nucleotide Polymorphism (SNP)microarray containing about300,000SNPs in one array. Since these SNPs arespreading over all23pairs of chromosomes, it is possible to achieve a comprehensiveand concurrent screening of chromosomal aberrations such as deletion, duplication,insertion, unbalanced translocation, and aneuploidy with resolution up to10.6kb.The first step of the project established the single-cell whole genomeamplification (WGA), achieved quantity and quality of amplified DNA from a singlecell satisfiable for the run in SNP microarray.The second part of this project is to perform SNP microarray with a chip of300,000SNPs.12DNA samples were prepared for this essay, including standardgenomic DNA of human chromsomal abberation cell lines and DNA frompathological samples diagnosed by hosptical. The genetic testing result ofchromosomal abberation cell lines by SNP microarray concur with their sequencingresult, therefore validating SNP microarray established in this paper. The microarrayresults of pathological samples are also consistent with, but more precise and specificthan their preliminary clinic diagnosis.