Comprehensive analysis of mitochondria-related genes during gametogenesis and it's application to reproductive medicine

我们在研究期间获得了以下发现：(1)为检测与疾病相关的mtDNA突变的异质性，建立了全基因组扩增(WGA)-PCR-RFLP-Image J simple快速、简单、廉价的诊断系统。(2)对单细胞进行染色体非整倍体分析，着床前诊断的胚胎63%为非整倍体。(3)为了检验WGA的扩增效率，对靶基因和与该基因密切相关的STR标记进行多位点同时分析，实现了胚胎着床前遗传单倍型。

We have obtained the following findings during the research period: (1)For detection of heteroplasmy for mtDNA mutations associated with the diseases, quick, simple and cheap diagnostic system using whole genome amplification (WGA)-PCR-RFLP-Image J simple was established. (2)As a result of chromosome aneuploidy analysis on single cell, 63% of the embryo which developed in the case of preimplantation diagnosis were revealed aneuploid. (3)As a effect of examination of the amplification efficiency of WGA, multi-locus simoultananeous analysis of targeted gene and STR markers closely linked to the gene enabled preimplantation genetic haplotyping.