染色体易位-胚胎植入前诊断的研究进展

发布时间：2019-02-21 14:59

【摘要】：染色体易位携带者有较高的发生不良妊娠结局的风险,主要源自高概率的非均衡配子。对于染色体易位的携带者,进行胚胎植入前遗传学诊断(preimplantation genetic diagnosis,PGD)可以改善妊娠结局。目前,临床应用的非平衡易位诊断的方法主要有比较基因组杂交微阵列(comparative genomic hybridization array,array CGH)、单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)和二代测序(next generation sequencing,NGS);荧光原位杂交(fluorescence in situ hybridization,FISH),能够区分平衡易位和正常胚胎,可能实现的技术有NGS。此外,平衡易位的诊断是否有必要开展尚存在争议。
[Abstract]:Chromosome translocation carriers have a higher risk of adverse pregnancy outcomes, mainly due to high probability of unbalanced gametes. For chromosomal translocation carriers, pre-implantation genetic diagnosis of (preimplantation genetic diagnosis,PGD) may improve pregnancy outcomes. At present, the main diagnostic methods of non-equilibrium translocation in clinical use are comparative genomic hybridization microarray (comparative genomic hybridization array,array CGH), single nucleotide polymorphism microarray (single nucleotide polymorphism array,SNP array and second-generation sequencing (next generation sequencing,NGS). Fluorescent in situ hybridization (fluorescence in situ hybridization,FISH), which can distinguish balanced translocation from normal embryos, possible techniques include NGS. In addition, whether the diagnosis of balanced translocation is necessary is still controversial.
【作者单位】：中国人民解放军总医院妇产科;山西省妇幼保健院生殖医学中心;第四军医大学唐都医院妇产科;
【基金】：全军“十二五”重点项目,项目号:BWS11J058
【分类号】：R714.8

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