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应用引物原位标记快速产前诊断20例胎儿染色体非整倍体 被引量：1

Rapid prenatal diagnosis of 20 cases of fetal chromosomal aneuploidies by primed in situ labeling (PRINS)
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摘要 目的　探讨引物原位标记 (PRINS)应用于脐血间期细胞进行快速产前诊断染色体非整倍体的准确性及可行性。方法　采用 18,2 1,13 ,X ,Y染色体特异性引物 ,检测 2 0例脐血间期细胞染色体数目 ,并与染色体G带分析结果比较。结果　采用PRINS方法检测 2 0例脐血标本 ,检出 1例 13 -三体 ,1例 18-三体 ,2例 2 1-三体 ,与染色体G带分析结果一致 ,准确率达 10 0 %。结论　PRINS产前诊断染色体数目异常 ,具有准确性高、快速、简便、价廉的特点 。 Objective To study the feasibility of PRINS for rapid prenatal diagnosis of fetal aneuploidy in interphase cells from umbilical blood.Methods Primer 13?18?21? X and Y were used to label chromosomes in interphase cells from umbilical blood. The results of PRINS were compared with the chromosome G banding analysis.Results Using the primer to label chromosomes in interphase cells from umbilical blood,one sample of trisomy 13,one sample of trisomy 18,two samples of trisomy 21 were detected and all gender of fetus were judged correctly.Conclusion PRINS is a rapid?efficient and reliable method to detect fetal aneuploidy in interphase cells from umbilical blood.We think that it is an efficient way for rapid prenatal diagnosis of aneuploidy and deserved to be popularized.
作者 舒群 王莉敏 王德芬 王怀军 庄依亮
机构地区 上海市第一妇婴保健院 辽阳市第三人民医院 复旦大学附属妇产科医院
出处 《中国实用妇科与产科杂志》 CAS CSCD 北大核心 2003年第1期28-30,共3页 Chinese Journal of Practical Gynecology and Obstetrics
基金 上海市科委科学基金资助 (资助号:98- 2 - 30 2 )
关键词 引物原位标记 产前诊断 胎儿 染色体 非整倍体 PRINS (Primed in situ labeling) Umbilical blood Prenatal diagnosis Aneuploidy
分类号 R714.55 [医药卫生—妇产科学]
  • 相关文献

参考文献13

  • 1[1]Hook EB.The impact of aneuploidy upon public health:mortality and morbidity associated with human chromosome abnormalities.New York:Plenum,1985.7
  • 2[2]Koch JE,Kvrass S,Petersen KB,et al.Oligonucleotide-priming methods for the chromosome-specific labeling of alpha satellite DNA in situ. Chromosoma,1989 ,98(4): 259
  • 3[3]Rappold GA,Cremer T,Hager HD,et al.Sex chromosome position in human interphase nuclei as studied by in situ hybridization with chromosome specific DNA probes.Hum Genet,1984,67(3),317
  • 4[4]Ward BE,Gersen SL,Carelli MP,et al.Rapid prenatal diagnosis of chromosomal aneupliodies by FISH:clinical experience with 4500 specimens.Am J Hum Genet,1993,52(5):854
  • 5[5]Cremer T,Lichter P,Borden J,et al.Dectection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization.Hum Genet,1988,80(3):235
  • 6[6]Koch J,Mogensen J,Pedersen S,et al.Fast one-step procedure for the detection of nucleic acids in situ by primer-induced sequence-specific labeling with fluorescence-12-Dutp.Cytogenet Cell Genet,1992,60(1):1
  • 7[7]Volpi EV,Baldini A. Multi-PRINS:a method of multi-color primed in situ labeling.Chromosome Res,1993,1(4):257
  • 8[8]Morris A,Boyd E,Dhanjal S,et al.Two years of prospective experience using fluorescence in situ hybridization on uncultured amniotic fluid cells for rapid prenatal diagnosis of common chromosomal aneuploidies.Prenat Diagn,1999,19(6):546
  • 9[9]Winsor EJ,Sliver MP,Theve R,et al.Maternal cell contamination in uncultured amniotic fluid.Prenat Diagn,1996,16(1):49
  • 10[10]Costa D,Borrell A,Soler A,et al.Cytogenetic studies in fetal blood.Fetal Diagn Ther,1998,13(3):169

二级参考文献5

  • 1van Opstal D,Van Hemel JO,Eussen BH,et al.A chromosome 21specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei[].Prenatal Diagnosis.1995
  • 2Sitherland J.Isolation and characterization of a major tandem repeat family from the X chromosome[].Nucleic Acids Research.1983
  • 3Devilee P,Cremer T,Slagboom P,et al.Two subsets of human alphoid repetitive DNA shows distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21[].Cytogenetics and Cell Genetics.1986
  • 4van Opstal D,van Hemel J,Sachs ES.Fetal aneuploidy diagnosed by fluorescence in situ hybridisation within 24 hours after amniocentesis[].The Lancet.1993
  • 5Wolfe J,Darling SM,Erickson RP,et al.Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome[].Journal of Molecular Biology.1985

共引文献8

同被引文献18

  • 1曾梅,丁显平,蒋敏,李小波.引物原位标记技术快速诊断精子染色体非整倍性[J].生殖与避孕,2006,26(7):418-421. 被引量：8
  • 2薛慧琴,罗国容.引物原位标记技术标记胎儿细胞的可行性探讨[J].中国妇幼保健,2007,22(6):805-806. 被引量：1
  • 3Koch JE, Kolvraa S, Petrson KB, et al. Oligonucleotidepriming method for the chromosome - specific labeling of alpha satellite DNA in situ [ J ]. Chromosome, 1989,98:259.
  • 4Terkelsen C, Koch J, Kolvraa S, et al. Repeated primed in situ labeling :formation and labeling of specific DNA sequences in chromosomes and nuclei [ J]. Cytogenet Cell Genet, 1993,63 (4) : 235.
  • 5Hindkjaer J,Koch J,Mogensen J, et al. Fast, sensitive multicolor detection of nucteic acids in situ by PRimed IN Situ labeling (PRINS) [ J ]. Cytogenet Cell Genet, 1994,66 ( 3 ): 152.
  • 6Gadji M, Krabchi K, Drouin R. Simultaneous identification of chromosomes 18, X, hnd Y in uncultured amniocytes by using muhiprimed in situ labeling technique [ J ]. Clin Genet, 2005 ; 68 (1) :15.
  • 7左伋.医学遗传学[M]:第2版.上海:上海医科大学出版社,2000.166.
  • 8Pellstor F,Girardet A,Lelort G,et al. Use of the primed in situ labeling technique for a rapid detection of chromosomes 13.16. 18.21. X and Y[J]. Hum Genet,1995 ,95 :12.
  • 9Pellestor F,Girardet A, Andreo B,et al. A polymorphic alpha satellite sequence specific for human chromosome 13 detected by oligonucleotide primed in situ labelling (PRINS) [ J ]. Hum Genet, 1994,94(4) :346.
  • 10Brandt C, Djernes B, Stromkjaer H, et al. Pseudodicentric chromosome .18 diagnosed by chromsome painting and primed in sltu labelling [ J ]. J Med Genet, 1994,31 ( 2 ) :99.

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中国实用妇科与产科杂志
2003年 第1期

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