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绒毛膜绒毛直接制片中的染色体显带

Chromosome banding in direct preparations of chorionic villi.

作者信息

Murer-Orlando M, Llerena J, McGuire M, Zahed L, Crolla J, Bobrow M, Sheridan R

机构信息

Paediatric Research Unit, United Medical School, Guy's Hospital, London, U.K.

出版信息

Prenat Diagn. 1988 Jul;8(6):461-9. doi: 10.1002/pd.1970080611.

DOI:10.1002/pd.1970080611
PMID:3211848
Abstract

Chorionic villus sampling (CVS) is now currently offered for first trimester prenatal diagnosis of genetic disorders. Chromosome analysis of CVS in direct and culture preparations is possible using modifications of standard banding techniques. We summarize our experience in applying QFQ, GTG, RBG, CBG, DA/DAPI, NOR, and SC differentiation protocols to direct preparations. Characteristic chromosome regions are properly labelled by these techniques, and analysis of 300 band stage karyotypes is consistently achievable on GTG banded direct preparations. However, banding of CVS direct chromosomes has proved to be difficult, and the analysis needs to be backed up by culture preparations.

摘要

绒毛取样(CVS)目前用于孕早期遗传病的产前诊断。通过对标准显带技术进行改进,可对CVS直接制片及培养制片进行染色体分析。我们总结了将QFQ、GTG、RBG、CBG、DA/DAPI、NOR和SC分化方案应用于直接制片的经验。这些技术能对特征性染色体区域进行恰当标记,并且在GTG显带直接制片上始终能够实现300条带阶段核型的分析。然而,CVS直接染色体的显带已被证明具有难度,分析需要通过培养制片来辅助。

相似文献

1
Chromosome banding in direct preparations of chorionic villi.绒毛膜绒毛直接制片中的染色体显带
Prenat Diagn. 1988 Jul;8(6):461-9. doi: 10.1002/pd.1970080611.
2
Handling chorionic villi for direct chromosome studies.
Lancet. 1983;2(8365-66):1491-2.
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A simple technique for obtaining high quality chromosome preparations from chorionic villus samples using FdU synchronization.一种使用5-氟脱氧尿苷同步化从绒毛膜绒毛样本中获得高质量染色体标本的简单技术。
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Improving the yield of direct chorionic villus slide preparations.提高直接绒毛膜绒毛玻片制备的产量。
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Direct fetal chromosome studies from chorionic villi.来自绒毛膜绒毛的直接胎儿染色体研究。
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Improved methods of direct and cultured chromosome preparations from chorionic villous samples.从绒毛膜绒毛样本中制备直接和培养染色体的改进方法。
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[Chromosome preparation technics and chromosome analysis of chorionic epithelium].[绒毛膜上皮细胞的染色体制备技术与染色体分析]
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A reliable method for obtaining high-resolution banded chromosome preparations from chorionic villus samples.一种从绒毛膜绒毛样本中获取高分辨率带型染色体标本的可靠方法。
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引用本文的文献

1
Cell cycle studies in chorionic villi.绒毛膜绒毛的细胞周期研究
Hum Genet. 1988 Oct;80(2):127-34. doi: 10.1007/BF00702854.
2
Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome.绒毛膜绒毛样本中的自发和诱导染色体断裂:一种用于共济失调毛细血管扩张症综合征孕早期产前诊断的细胞遗传学方法。
J Med Genet. 1989 Mar;26(3):174-8. doi: 10.1136/jmg.26.3.174.