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A simple method for prenatal diagnosis of trisomy 21 on uncultured amniocytes.

作者信息

Romana S P, Tachdjian G, Druart L, Cohen D, Berger R, Chérif D

机构信息

INSERM U301, Institut de Génétique Moléculaire, Paris, France.

出版信息

Eur J Hum Genet. 1993;1(3):245-51. doi: 10.1159/000472418.

DOI:10.1159/000472418
PMID:8044650
Abstract

Prenatal diagnosis of trisomy 21 would be easier if fluorescence in situ hybridization (FISH) could be applied to interphase nuclei. Therefore, we prepared a chromosome-21-specific probe by in vitro enzymatic amplification of inter-Alu sequences from YAC clones previously localized to this chromosome. This probe was used for FISH on 22 uncultured amniocyte samples. An easy, rapid, and safe technique is proposed for the prenatal diagnosis of trisomy 21.

摘要

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引用本文的文献

1
Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic application.利用荧光原位杂交技术分析21号染色体着丝粒周围区域特异性酵母人工染色体克隆：鉴定用于分子细胞遗传学应用的新标记
Hum Genet. 1995 Mar;95(3):287-92. doi: 10.1007/BF00225195.