端粒是位于染色体末端非编码DNA的重复序列，控制染色体的稳定性和基因组的完整性。端粒长度调节酶1基因RTEL1对端粒长度的调节具有至关重要的作用，端粒损耗及染色体断裂、异位均与其缺失相关，也是DNA双链断裂修复途径的重要成员，可通过抑制同源重组来维持基因组的稳定性。我们的前期研究表明在人非整倍体胚胎中端粒长度缩短，RTEL1表达下调，因此我们推测RTEL1基因通过调节端粒长度来维持基因组的稳定性，在非整倍体胚胎中其表达下调而导致其功能失衡而导致胚胎基因组的不稳定和染色体非整倍体的发生。我们拟通过RTEL1基因突变和基因启动子甲基化检测来解释非整倍体胚胎中RTEL1表达下调的原因，并进一步建立早期停止发育胚胎组织细胞模型，利用RNAi技术下调胚胎细胞RTEL1基因的表达，通过检测细胞周期和细胞基因组的变化来阐释RTEL1基因在人胚胎非整倍体发生过程的作用和机制。

Telomere is non-coding DNA repeating sequence at the ends of chromosomes, and maintains the stability of the chromosome and genome. Regulator of telomere elongation helicase 1(RTEL1) plays an important role in regulation of telomere length. Telomere loss, chromosome breakage and chromosome translocation are related to RTEL1 abnormality. RTEL1 also is important member of the DNA double strand break repair pathway by inhibiting homologous recombination of genome. Our previous results have shown that telomere length was shorten and expression of RTEL1 was downregulation in human aneuploid embryos. Therefore, we hypothesized that RTEL1 maintains genome stability by regulating telomere length. Genome instability and aneuploidy have occured in human embryos because of RTEL1 abnormality and disfunction. We intend to explain the reason of RTEL1 downregulation by detecting RTEL1 gene mutation and gene promoter methylation. Meanwhile, we will establlish cell lines of early aborted embryos, and downregulate expression of RTEL1 in cell lines using RNAi technology, then detect difference of cell cycle and cell genome after RNAi. We will illustrate the role of RTEL1 in the generating of human embryo aneuploid by this research.