采用引物原位标记/合成技术快速检测X、Y、13、18和21号染色体非整倍体。
Rapid detection of chromosome X, Y, 13, 18, and 21 aneuploidies by primed in situ labeling/synthesis technique.
作者信息
Halder Ashutosh, Jain Manish, Chaudhary Isha
机构信息
Department of Reproductive Biology, AIIMS, New Delhi, India.
出版信息
Indian J Hum Genet. 2013 Jan;19(1):14-7. doi: 10.4103/0971-6866.112877.
AIMS AND OBJECTIVE
Primed in situ labeling/synthesis (PRINS) technique is an alternative to fluorescent in situ hybridization for chromosome analysis. This study was designed to evaluate the application of PRINS for rapid diagnosis of common chromosomal aneuploidy.
MATERIALS AND METHODS
We have carried out PRINS using centromere specific oligonucleotide primers for chromosome X, Y, 13, 18 and 21 on lymphocyte metaphase and interphase cells spread. Specific primer was annealed in situ, followed by elongation of primer by Taq DNA polymerase in presence of labeled nucleotides. Finally, reaction was stopped and visualized directly under fluorescent microscope.
RESULTS
Discrete centromere specific signals were observed with each primer.
CONCLUSION
PRINS seems to be a rapid and reliable method to detect common chromosome aneuploidy in peripheral blood lymphocyte metaphase and interphase cells.
目的与目标
原位引物标记/合成（PRINS）技术是用于染色体分析的荧光原位杂交的替代方法。本研究旨在评估PRINS在常见染色体非整倍体快速诊断中的应用。
材料与方法
我们使用针对X、Y、13、18和21号染色体的着丝粒特异性寡核苷酸引物，对淋巴细胞中期和间期细胞涂片进行了PRINS操作。特异性引物原位退火，随后在标记核苷酸存在的情况下，由Taq DNA聚合酶使引物延伸。最后，终止反应并直接在荧光显微镜下观察。
结果
使用每种引物均观察到离散的着丝粒特异性信号。
结论
PRINS似乎是检测外周血淋巴细胞中期和间期细胞中常见染色体非整倍体的一种快速且可靠的方法。
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