右键—目标另存为 - 成都市妇女儿童医学中心.ppt

* * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * * 多聚酶链反应 -PCR Lo, Y. M. D. et al. Prenatal diagnosis, NATURE REVIEWS | GENETICS, 2007 多聚酶链反应 (PCR) Figure 1 Schematic representation of the non-invasive detection of fetal Down syndrome via the analysis of placentally derived PLAC4 cf-RNA. cff-RNA, placentally derived cell-free fetal messenger RNA; mRNA, messenger RNA; MS, mass spectroscopy; RT-PCR, real-time polymerase chain reaction; SNP, single nucleotide polymorphism. 图1图示胎儿唐氏综合症的非侵入性的侦查通过对胎盘的获得的PLAC4锎核糖核酸的分析。 Cff-RNA酸，胎盘的获得的无细胞胎儿cf-RNA; mRNA， RNA; MS，质谱分析; RT-PCR，实时聚合酶链反应; SNP，唯一核苷酸多形性。 多聚酶链反应 (PCR) Figure 2 Schematic representation of the non-invasive detection of fetal trisomy 18 via the analysis o epigenetically modified maspin sequences. cff-RNA, placentally derived cell-free fetal messenger RNA; MS, mass spectroscopy; PCR, polymerase chain reaction. 多聚酶链反应 (PCR) DNA RNA SERPINB5 PLAC4 多聚酶链反应 (PCR) Placental blood Mother’s blood 赖特cf和奇蒂储蓄，无细胞胎儿dna和rna母血：更安全的产前检查的影响 Wright CF and Chitty LS, Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. BMJ 2009;339:b2451 多聚酶链反应 (PCR) 全基因组测序 Whole Genome Sequencing Sanger sequencing: capillary electrophoresis 全基因组测序 454 sequencing: pyrosequencing in high-density picoliter reactors 全基因组测序 Illumina/Solexa: sequencing by synthesis of single-molecule arrays with reversible terminators 全基因组测序 Illumina/Solexa: sequencing by synthesis of single-molecule arrays with reversible terminators 全基因组测序 Illumina/Solexa: sequencing by synthesis of single-molecule arrays with reversible terminators 全基因组测序 Illumina/Solexa: sequencing by synthesis of single-molecule arrays with reversible terminators 全基因组测序 ABI/SOLiD: massively parallel sequencing by ligation 全基因组测序 ABI/SOLiD: massively parallel sequencing by ligation 全基因组测序 Fullwood, et al, Genome Res, 2009 全基因组测序 全基因组测序 全基因组测序 Fullwood, et al, Genome R