单核苷酸多态性(single nucleotide polymorphism array,SNP)是指不同物种、个体基因组DNA序列同一位置上的单个核苷酸存在差异,其中少数单核苷酸多态性的变异与疾病相关。单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)是近年来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。目前单核苷酸多态性微阵列分析技术不仅广泛应用在疾病病因学的探讨及药物基因组学研究等医学范围,在不孕夫妇染色体分子核型筛查、植入前遗传学诊断、产前诊断及新生儿筛查等辅助生殖领域也得到了广泛的应用。 Single nucleotide polymorphism (SNP) refers to the difference of single nucleotide in the same position of individual genomic DNA sequences among different species, and the variation of a few single nucleotide polymorphisms is related to the disease. Single nucleotide polymorphism array (SNP) is a new molecular cytogenetic technique in recent years. It has the advantages of fast diagnosis, simultaneous diagnosis of 46 chromosomes, high resolution, detectable single parents Ploidy, not subject to abnormal chromosome types. The current single nucleotide polymorphism microarray analysis technology is not only widely used in the etiology of the disease and pharmacogenomics research and other medical areas, screening of chromosomes in infertile couples karyotype, preimplantation genetic diagnosis, prenatal Diagnostic and neonatal screening and other assisted reproductive areas have also been widely used.