|
|
|
| 母体血浆中胎儿游离DNA的研究现状及进展 |
| 邹昕，杜娟，卢光琇 |
| 中南大学生殖与干细胞工程研究所，湖南长沙410078 |
|
| Progress in the research on cell-free fetal DNA in maternal plasma |
| ZOU Xin, DU Juan, LU Guang-Xiu. |
| Insitute of Reproductive and Stem Cell Engineering, Central South University, Changsha 410078, China |
| ［1］Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum［J］. Lancet, 1997, 350（9076)：485-487.
|
| ［2］Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis［J］. Am J Hum Genet, 1998, 62(4)：768-775.
|
| ［3］Wataganara T, Metzenbauer M, Peter I, Johnson KL, Bianchi DW. Placental volume, as measured by 3-dimensional sonography and levels of maternal plasma cell-free fetal DNA［J］. Am J Obstet Gynecol, 2005, 193(2)：496-500.
|
| ［4］Tjoa ML, Cindrova-Davies T, Spasic-Boskovic O, Bianchi DW, Burton GJ. Trophoblastic oxidative stress and the release of cell-free feto-placental DNA［J］. Am J Pathol, 2006, 169(2)：400-404.
|
| ［5］Hui L, Vauqhan JI, Nelson M. Effect of labor on postpartum clearance of cell-free fetal DNA from the maternal circulation ［J］.Prenatal Diagn, 2008, 28(4):304-308.
|
| ［6］Hyodo M, Samura O, Fujito N, Tanigawa M, Miyoshi H, Fujiwra H, et al. No correlation between the number of fetal nucleated cells and the amount of cell-free fetal DNA in maternal circulation either before or after delivery［J］. Prenatal Diagn, 2007, 27(8)：717-721.
|
| ［7］Chan LY, Leung TN, Chan KC, Tai HL, Lau TK, Wong EM, et al. Serial analysis of fetal DNA concentrations in maternal plasma in late pregnancy［J］. Clin Chem, 2003, 49(4):678-680.
|
| ［8］Chan KC, Zhang J, Hui AB, Wong N, Lau TK, Leung TN, et al.Size distributions of maternal and fetal DNA in maternal plasma［J］.Clin Chem, 2004, 50(1):88-92.
|
| ［9］Dukes KA, Sullivan LM, Lewis D, Johnson KL, Bianchi DW, Simpson JL, et al. The effect of the elapsed time between blood draw and processing on the recovery of fetal cells from maternal blood［J］. J Soc Gynecol Investig, 2004, 11(3):154-165.
|
| ［10］Koide K, Sekizawa A, Iwasaki M, Matsuoka R, Honma S, Farina A, et al. Fragmentation of cell-free fetal DNA in plasma and urine of pregnant women［J］. Prenat Diagn, 2005, 25(7):604-607.
|
| ［11］Li Y, Holzgreve W, Page-Christiaens GC, Gille JJ, Hahn S. Improved prenatal detection of fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma—case report ［J］.Prenat Diagn, 2004, 24(11):896-898.
|
| ［12］Huang DJ, Zimmermann BG, Holzgreve W, Hahn S. Use of an automated method improves the yield and quality of cell-free fetal DNA extracted from maternal plasma［J］. Clin Chem, 2005, 51(12):2419-2420.
|
| ［13］Galbiati S, Smid M, Gambini D, Ferrari A, Restagno G, Viora E, et al. Fetal DNA detection in maternal plasma throughout gestation ［J］. Hum Genet, 2005, 117(2-3):243-248.
|
| ［14］Chim SS, Tong YK, Chiu RW, Lau TK, Leung TN, Chan LY, et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma ［J］.Proc Natl Acad Sci U S A, 2005, 102(41):14753-14758.
|
| ［15］Chan KC, Ding C, Gerovassili A, Yeung SW, Chiu RW, Leung TN, et al. Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis［J］. Clin Chem, 2006, 52(12):2211-2218.
|
| ［16］Rijnders RJ, Christiaens GC, Bossers B, van der Smagt JJ, van der Schoot CE, de Haas M. Clinical applications of cell-free fetal DNA from maternal plasma［J］. Obstet Gynecol, 2004, 103(1):157-164.
|
| ［17］Zimmermann B, El-Sheikhah A, Nicolaides K, Holzgreve W, Hahn S. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma［J］. Clin Chem, 2005, 51(9):1598-1604.
|
| ［18］Deng Z, Wu G, Li Q, Zhang X, Liang Y, Li D, et al. Noninvasive genotyping of 9 Y-chromosome specific STR loci using circulatory fetal DNA in maternal plasma by multiplex PCR［J］. Prenat Diagn, 2006, 26(4):362-368.
|
| ［19］Wagner J, Dzijan S, Pavan-Jukic D, Wagner J, Lauc G. Analysis of multiple loci can increase reliability of detection of fetal Y-chromosome DNA in maternal plasma［J］. Prenatal Diagn, 2008, 28(5):412-416.
|
| ［20］Brojer E, Zupanska B, Guz K, Orzinska A, Kalinska A.Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma［J］. Transfusion, 2005, 45(9):1473-1480.
|
| ［21］Li Y, Finning K, Daniels G, Hahn S, Zhong X, Holzgreve W.Noninvasive genotyping fetal Kell blood group(KEL1) using cell-free fetal DNA in maternal plasma by MALDI-TOF mass spectrometry［J］. Prenatal Diagn, 2008, 28(3):203-208.
|
| ［22］Farina A, LeShane ES, Lambert-Messerlian GM, Canick JA, Lee T, Neveux LM, et al. Evaluation of cell-free fetal DNA as a second-trimester maternal serum marker of Down syndrome pregnancy［J］. Clin Chem, 2003, 49(2):239-242.
|
| ［23］Li Y, Page-Christiaens GC, Gille JJ, Holzgreve W, Hahn S. Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay［J］. Prenat Diagn, 2007, 27(1):11-17.
|
| ［24］Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma［J］. Clin Chem, 2000, 46(2):301-302.
|
| ［25］González-González MC, Trujillo MJ, Rodriguez de Alba M, Garcia-Hoyos M, Lorda-Sánchez I, Diaz-Recasens J, et al. Huntington diseaseunaffected fetus diagnosed from maternal plasma using QF-PCR［J］. Prenat Diagn, 2003, 23(3):232-234.
|
| ［26］Ding C, Chiu RW, Lau TK, Leung TN, Chan LC, Chan AY, et al. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis［J］. Proc Natl Acad Sci U S A, 2004, 101(29):10762-10767.
|
| ［27］Li Y, Di Maro E, Vitucci A, Zimmermann B, Holzgreve W, Hahn S.Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma［J］. JAMA, 2005, 293(7):843-849.
|
| ［28］Lazaros L, Hatzi E, Bouba I, Makrydimas G, Dalkalitsis N, Stefos T, et al. Non-invasive first-trimester detection of paternal beta-globin gene mutations and polymorphisms as predictors of thalassemia risk at chorionic villous sampling［J］. Eur J Obstet Gynecol Reprod Biol, 2008, 140(1):17-20.
|
| ［29］陈熙，任景慧，郭辉，林秋华，姚秋璇.实时PCR和cycling probe技术检测母血浆游离胎儿DNA筛选重型β地中海贫血胎儿［J］. 南方医科大学学报, 2008, 28(7)：1210-1213.
|
| ［30］Chiu RW, Lau TK, Cheung PT, Gong ZQ, Leung TN, Lo YM. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study［J］. Clin Chem, 2002, 48(5):778-780.
|
| ［31］Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G,et al. New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma ［J］.J Cyst Fibros, 2008, 7(6):505-510.
|
| ［32］Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, et al. Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis［J］. Mol Vis, 2008, 14:1388-1394.
|
| ［33］Bustamante-Aragones A, Garcia-Hoyos M, Rodriguez DE Alba M, Gonzalez-Gonzalez C, Lorda-Sanchez I, Diego-Alvarez D, et al. Detection of a paternally inherited fetal mutation in maternal plasmaby the use of automated sequencing［J］. Ann N Y Acad, 2006, 1075:108-117.
|
| [1] |
徐洁, 杨中州, 张姝, 吴少亘, 胡娅莉. 先天性心脏病胎儿心脏及胎盘组织中MAPK及Akt信号通路分子的变化[J]. 中国当代儿科杂志, 2010, 12(05): 327-332. |
| [2] |
邹昕, 杜娟, 卢光琇. 母体血浆中胎儿游离DNA的研究现状及进展[J]. 中国当代儿科杂志, 2009, 11(10): 862-865. |
| [3] |
滕月娥, 胡潇滨, 魏克伦. 宫内窘迫胎鼠肾组织环氧化酶-2表达的实验研究(英文)[J]. 中国当代儿科杂志, 2005, 7(1): 15-19. |
| [4] |
付春花, 张丙宏, 严彩霞, 陈丽萍, 麦根荣. 肠三叶因子对新生大鼠坏死性小肠结肠炎的保护作用(英文)[J]. 中国当代儿科杂志, 2005, 7(1): 20-24. |
| [5] |
魏克伦, 杨于嘉, 姚裕家, 杜立中, 孙吉平. 中国城市早产儿流行病学初步调查报告[J]. 中国当代儿科杂志, 2005, 7(1): 25-28. |
| [6] |
邢林, 杜洪蓉. 57例围生期新生儿死因分析[J]. 中国当代儿科杂志, 2001, 3(1): 90-90. |
|
|
|
|
