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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.

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。

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