FISH DETECTION OF TRISOMY-21 IN INTERPHASE BY THE SIMULTANEOUS USE OF 2 DIFFERENTIALLY LABELED COSMID CONTIGS

被引：15

作者：

DAVIES, AF

BARBER, L

MURERORLANDO, M

BOBROW, M

ADINOLFI, M

机构：

[1] Div. of Med. and Molecular Genetics, UMDS Guy's St. Thomas's Hospitals, Guy's Tower

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 09期

关键词：

D O I：

10.1136/jmg.31.9.679

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Techniques have been reported in which fluorescence in situ hybridisation (FISH) and cosmid probes are used to detect trisomy 21 (and other abnormalities involving chromosomes X, Y, 13, and 18) on uncultured amniocytes. However the detection rate of trisomy 21 is lower than for the other anomalies owing to a larger number of uninformative results and false negatives. We report the simultaneous use of two differentially labelled cosmid contigs to improve the detection rate of trisomy 21 on uncultured amniocyte samples thus allowing the prenatal diagnosis of Down's syndrome even if only few labelled nuclei are available.

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页码：679 / 685

页数：7

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