单核苷酸多态性微阵列在胚胎植入前遗传学诊断中的应用

Application of Single Nucleotide Polymorphism in Preimplantation Genetic Diagnosis

胚胎植入前遗传学诊断(preimplantation genetic diagnosis,PGD)是在体外受精过程中,对具有遗传风险患者的卵裂期胚胎或囊胚进行细胞活检和遗传学诊断,以选择移植正常的胚胎,从而获得健康的婴儿,是辅助生殖技术的重要组成部分。随着检测技术的发展,更多的方法被用于PGD的单细胞诊断。单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)是近年来用于PGD诊断的一种新的分子细胞遗传学技术,具有诊断快、可同时诊断46条染色体、分辨率高、可检测单亲二倍体、不受异常染色体类型限制、可追溯种植胚胎来源及异常胚胎额外染色体的来源等优势,同时也在辅助生殖的其他方面有着广泛的应用。

Preimplantation genetic diagnosis （PGD） is a method to analyze embryo hereditary substance before implantation,and to identify which embryo is normal and suitable to transfer. PGD is one of the essential parts of assisted reproductive technology （ART）. With the development of the detecting techniques, more technologies were applied in PGD. Single nueleotide polymorphism array （SNP array） is a new technology of PGD, with many advantages of fast diagnosis,screening for 24 chromosomes in one time,high resolution, detection of uniparental disomy. The origin of implanted embryo or the origin of extra chromosome from abnormal embryos can be found by SNP array. In addition, SNP array is widely used in other fields of assisted reproduction.