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产前筛查染色体非整倍体的新技术 被引量:2

New techniqe of screening chromosome aneuploidy in prenatal
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作者 王芳 乔福元
出处 《中国优生与遗传杂志》 2004年第4期1-2,9,共3页 Chinese Journal of Birth Health & Heredity
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参考文献20

  • 1史庆华,张坚宣,潘淑娟,单祥年,张锡然,陈宜峰,余龙,赵寿元.用DNA短串联重复序列多态性诊断先天愚型患者中21号额外染色体的双亲起源[J].中华医学遗传学杂志,1998,15(4):206-209. 被引量:16
  • 2金春莲,张励,王若梅,于海,姜莉,林长坤,李福才,孙开来.应用定量PCR方法快速基因诊断Down综合征[J].中华医学遗传学杂志,1999,16(4):259-261. 被引量:14
  • 3Peterson MB, Schinzel AA , Binkert F, Tranebjaerg L, et al. Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome[J]. Am J Hum Genet, 1991,48:65 - 71.
  • 4Edwards A, Civitello A, Hammond HA, et al. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats[J]. Am J Hum Genet, 1991,49: 746 - 56.
  • 5Pertl B . Rapid detection of trisomies 21and 18 and sexing by QF multiplex PCR[J ]. Hum Genet, 1996, 98: 55 - 9.
  • 6Pertl B, Susanne Kopp, Peter M, et al. Quantitative fluorescent polymerase chain reaction for the rapid detection of common aneuploidies and fetal sex[J]. Am J Obstet Gynecol, 1997, 177:899 - 906 .
  • 7Sherlock J, Cirigliano V, Petrou M, et al. Assessment or Quantitative Fluorescent Multiplex PCR performed on single cells[J]. Annols Hum Gene , 1998, 62 (1): 9 - 23.
  • 8Samura O, Sohda S, Johnson KL, Pertl B, et al. Diagnosis of trisomy 21 in fetal nucleated erythrocytes from maternal blood by use of short tandem repeat sequences [ J ]. Clin Chem, 2001 Sep, 47 (9):1622 - 6.
  • 9Pertl B, Kopp S, Kroisel PM, et al. Rapid detection of chromosome aneuploidies by quantitative fluorescent PCR: first application on 247 chorionic samples[J]. J Med Genet, 1999, 36:300 - 303.
  • 10Chen CP, Chen SR, Yeh LF, et al. Prenatal diagnosis and genetic analysis of double trisomy 48, XXX, + 18[J]. Prenat - Diagn, 2000Sep, 20(9) :750 - 3.

二级参考文献8

  • 1余龙,宫立群,邓余,施少林,赵寿元.一种用于PCR-SSCP和STR分析的银染PAG胶膜片简易制备法[J].中华医学遗传学杂志,1996,13(3):177-178. 被引量:18
  • 2Pertl B, Yan Sc, Shelock J, et al. Rapid molecular method for trisomy 21 by quantitative PCR. Hum Genet, 1993,91:567 - 570
  • 3Adinolfi M,Sherlock J, Pertl B. Rapid detection of selected aneuplioidies by quantitive fluorescent PCR. Biokssays, 1995,17(7) :661 - 664
  • 4Pert B, Kopp WS, Kroisel PM, et al. Rapid detection of trisomies 21 and 18 and sexing by quantitive fluorescent multiplex PCR. Hum Genet, 1996,98: 5559
  • 5Suhubert R, Raff K, Schwanitz G. Molecular - cytogenetic investigations of ten tem placentae in cases of prenatally diagnosed mosaicism, Prenat Diagn, 1996,16:907 - 913
  • 6Wald NL, et al. Serum screening for Down's syndrome between 8 and 14 weeks of preganey. Intemational Prenatal Screening Research Group. Obstet Gynaecol, 1996, May,lo3(5) :407 - 12
  • 7林长坤,姜莉,张励,金春莲,孙开来.一种实用的基因组DNA提取方法及其应用[J].中国医科大学学报,1998,27(4):440-440. 被引量:23
  • 8黄艳仪,孙筱放,黎青,麦卫阳,郑育红,陈元本.应用荧光原位杂交技术诊断羊水细胞染色体异常[J].中华妇产科杂志,1999,34(3):153-155. 被引量:12

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