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荧光原位杂交技术检测176例稽留流产绒毛组织染色体数目异常 被引量:6

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摘要 目的探讨荧光原位杂交(fluorescence in suit hybridization, FISH)技术对于检测染色体数目异常的价值以及染色体数目异常与稽留流产的关系。方法应用FISH技术对未经培养的176例稽留流产胎儿绒毛组织进行13、18、21、X、Y号染色体数目异常检测。结果在176例稽留流产绒毛标本的分裂间期细胞核中共发现染色体数目异常47例(26.7%),染色体数目异常嵌合体94例(53.4%),总体异常率为80.1%(141/176)。47例染色体数目异常者中,13、21、18三体合并XXX或XXY或XYY13例,X单体13例,18三体5例,21三体8例,21、13双三体和13三体各3例,21单体和21多体各1例。94例染色体数目异常嵌合体中,13、21四体嵌合体为89例,其他异常嵌合体5例。结论染色体数目的异常是导致稽留流产的重要因素。FISH技术是检测染色体数目异常简单、快速和准确的方法,有较高的临床应用价值。
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2013年第4期484-486,共3页 Chinese Journal of Medical Genetics
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  • 1Can eheux V, Tachd jian G, Druart L, et al. Evaluation of X, Y, 18, and 13/ 21 alpha satellite probes for interphase cytogenetie analysis of uncultured amniocytes by fluorescence in suit hybridization. Prertat Diagn, 1994, 14..79.
  • 2Cremer T, Lanegent J, Bruckner A, et al. Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and nonradioactive in situ hybridization techniques- Diagnosis of trisome 18 with probe LI. 84. Hum Genet, 1986, 74.- 346-352.
  • 3Licher P, Cremer T, Tang JC, et al. Rapid detection of human chromosome 21 aberraion by in situ hybridization. Proc Natl Acad Sci U S A, 1988, 85: 9664-9668.
  • 4Miharu N, Best RG, Young SR. Nunerieal chromosome abnormalities in spermatozoa of fertile and infertilemem detected by fluorescence in situ hybridization. Hum Genet, 1994, 93: 502-506.
  • 5Evans MI, Ebrahin SAD, Berry SM, et al. Fluorescent in suit hybridization utilization for high-rish prenatal diagnose is: a trade-off among speed, expense, and inherent limitations of chromosome-specific probes, Am J Obstet Gynecol, 1994, 171:1055-1057.
  • 6Lewin P, K einfinger P, Bazin A, et al. Difining the efficiency of fluorescence in suit hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnosis. Prenat Diagn, 2000, 20: 1.
  • 7Werenonies S, Sandrom DJ, Morton CC, et al. Fluorescence in suit hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases. Prenat Diagn, 2001, 21:262.
  • 8Bettio D, Venci A, Levi Setti PE. Chromosomal abnormalities in miscarriages alter di[[erent assisted reproduction procedures. Placenta, 2008, 29: 126-128.
  • 9Kim JW, Lee WS, Yoon TK, et al. Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment. BMC Med Genet, 2010, 153:153.
  • 10Doria S, Carvalho F, Ramalho C, et al. An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths. Eur J Obstet Gyneeol Reprod Biol, 2009, 147:144-150.

二级参考文献16

  • 1庞义坚,陈永予.反复流产的病因探讨[J].华夏医学,2005,18(2):307-309. 被引量:8
  • 2American College of Obstetrics and Gynecology. Early Pregnancy Loss. The American College of Obstetrics and Gynecology[ M]. Compendium of Selected Publications. 1995.
  • 3Zhang YX, et al. Genetic analysis of first - trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH [ J ]. Clin Genet, 2009,75 (2) : 133 - 40.
  • 4Lars Feuk,Andrew R Carson,et al. Structural variation in the human genome [ J ]. Nature Reviews Genetics, 2006,7 ( 2 ) : 85 - 97.
  • 5Andrew J Sharp,Ze Cheng. Structural variation of the Human Genome [ J]. Annu Rev Genomics Hum Genet,2006,7:407 - 442.
  • 6Jin - Woo Kim, So - Yeon Park, et al. X - chromosome inactivation patterns in korean women with idiopathic recurrent spontaneous abortion [ J ]. J Korean Med Sci,2004, ( 19 ) : 258 - 62.
  • 7王淑珍.实用妇产科学[M].北京:人民卫生出版社,1990.970.
  • 8Breuning MH. From chromosomes to DNA, a revolution in prenatal diagnosis. Eur J Hum Genet, 2005,13 : 517-518.
  • 9Shaffer LG,Bui TH. Molecular cytogenetie and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet,2007 ,145C:87-98.
  • 10Pettenati MJ,Von Kap-Herr C, Jackle B, et al. Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomerie probes. Prenat Diagn,2002,22 : 193-197.

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  • 1Gunby J, Daya S. Assisted reproductive technologies (ART) in Canada: 2001 results from the Canadian ARTRegister [J]. Fertil Steril,2005,84(3) : 590-599.
  • 2Society for Assisted Reproductive Technology, American Society for Reproductive Medicine. Assisted reproductive technology in the United States: 2001 results generated from the American So- ciety for Reproductive Medicine/Society for Assisted Reproduc- tive Technology registry [J]. Fertil Steril, 2007, 87 (6) : 1253- 1266.
  • 3Goddijn M, Leschot N J. Genetic aspects of miscarriage [J]. Bail- lieres Best Pract Res Clin Obstet Gynaecol, 2000,14:855-865.
  • 4Hassold T J. A cytogenetic study of repeated spontaneous abor- tions [J]. Am J Hum Genet, 1980,32(5 ) : 723-730.
  • 5Farr S L, Schieve L A, Jamieson D J. Pregnancy loss among preg- nancies conceived through assisted reproductive technology [J]. Am J Epidemiol, 2007,165 : 1380-1388.
  • 6Qin Junzhen. Risk of Chromosomal Abnormalities in early spon- taneous abortion after assisted reproductive technology: A Meta- Analysis [J/OL]. PLOS ONE,2013,8(10) :e75953.
  • 7Christiansen O B, pederen B. A randomized, double -blind, pla- cebo-controlled trial of intravenous immunoglobulin in the pre- vention of recurrent miscarriage: Evidence for a therapeutic ef- fect in women with secondary recurrent miscarriage [J]. Hum Reprod, 2002,17(3 ) : 809.
  • 8Ogasawara M, Aoki K. Embryonic karyotype of abortuses in re- lation to the number of previous miscarriages [J]. Fertil Steril, 2000.73(2) :300.
  • 9范先阁.210对反复流产夫妇的染色体分析[J].中华医学杂志,1986,21:287.
  • 10Ji Won Kim. Chromosomal abnormalities in spontaneous abor- tion after assisted reproductive treatment [J]. BMC Medical Ge- netics,2010,11 : 153.

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