摘要
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） is a DNA sequence variation occurring when a single nucleotide differs between members of a biological species or paired chromosomes in an individuals, some SNP variations are associated with human dieases. Single Nucleotide Polymorphisms micrioarray （ SNP array） is the latest technology which own the advantages of fast diagnosis, screening for 24 chromosomes in one time, high resolution, detection of uniparental disomy （UPD）. Array-SNP is thought to be key enables in the diagnosis of monogene disease, genetic disease and research concerning with pharrnacogenomics, at present, the technology of SNP array is also important in karyotyping screening of infertility, preimplantation genetic diagnosis （PGD）, prenatal diagnosis, neonatal screening and other fileds in reproductive medicine.
出处
《生殖与避孕》
CAS
CSCD
2012年第10期690-693,699,共5页
Reproduction and Contraception
