Reproductive Medicine Associates of New Jersey, Morristown, New Jersey 07960, USA.
Fertil Steril. 2010 Nov;94(6):2017-21. doi: 10.1016/j.fertnstert.2010.01.052. Epub 2010 Feb 26.
To develop and validate a whole genome amplification and single nucleotide polymorphism (SNP) microarray protocol for accurate single cell 24 chromosome aneuploidy screening.
Prospective, randomized, and blinded study.
Academic reproductive medicine center.
PATIENT(S): Multiple euploid and aneuploid cell lines were obtained from a public repository and blastomeres were obtained after biopsy of cleavage stage embryos from 78 patients undergoing IVF.
MAIN OUTCOME MEASURE(S): Accuracy of copy number assignment and consistency of individual SNPs, whole chromosomes, and single cell aneuploidy status were determined.
INTERVENTION(S): None.
RESULT(S): Single cells extracted from karyotypically defined cell lines provided 99.2% accuracy for individual SNPs, 99.8% accuracy for whole chromosomes, and 98.6% accuracy when applying a quality control threshold for the overall assignment of aneuploidy status. The concurrence for more than 80 million SNPs in 335 single blastomeres was 96.5%.
CONCLUSION(S): We have established and validated a SNP microarray-based single cell aneuploidy screening technology. Clinical validation studies are underway to determine the predictive value of this methodology.
开发和验证一种全基因组扩增和单核苷酸多态性 (SNP) 微阵列协议，用于准确的单细胞 24 条染色体非整倍体筛查。
前瞻性、随机和盲法研究。
学术生殖医学中心。
从公共库中获得多个整倍体和非整倍体细胞系，并从 78 名接受体外受精的患者的卵裂期胚胎活检中获得卵裂球。
确定拷贝数赋值的准确性和个体 SNP、整条染色体以及单细胞非整倍体状态的一致性。
无。
从核型定义的细胞系中提取的单细胞对个体 SNP 的准确率为 99.2%，对整条染色体的准确率为 99.8%，当应用非整倍体状态总体赋值的质量控制阈值时准确率为 98.6%。在 335 个单细胞中，超过 8000 万个 SNP 的一致性为 96.5%。
我们已经建立并验证了一种基于 SNP 微阵列的单细胞非整倍体筛查技术。正在进行临床验证研究，以确定该方法的预测价值。
