RAPID PRENATAL-DIAGNOSIS OF ANEUPLOIDY FROM UNCULTURED AMNIOTIC-FLUID CELLS USING 5-COLOR FLUORESCENCE IN-SITU HYBRIDIZATION

被引：45

作者：

DIVANE, A

CARTER, NP

SPATHAS, DH

FERGUSONSMITH, MA

机构：

[1] UNIV CAMBRIDGE,DEPT PATHOL,MOLEC GYTOGENET GRP,CAMBRIDGE CB2 1QP,ENGLAND

[2] UNIV PATRAS,SCH MED,GEN BIOL LAB,GR-26110 PATRAI,GREECE

来源：

PRENATAL DIAGNOSIS | 1994年 / 14卷 / 11期

关键词：

MULTICOLOR FLUORESCENCE IN SITU HYBRIDIZATION; TRISOMY; 21; UNCULTURED AMNIOTIC FLUID CELLS; PROBE RATIO MIXING;

D O I：

10.1002/pd.1970141109

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal. sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.

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页码：1061 / 1069

页数：9

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