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染色体异常的产前诊断通常依赖于中期分裂相的染色体分带技术。此法准确可靠但费时,一般需1至2周。荧光原位杂交法提供了一个可以通过分析间期细胞快速识别染色体异常的途径。此构思源于用Barr氏小体和Y小体鉴别性染色体数目异常;分子生物学技术构建的各种染色体专一性探针亦为间期细胞遗传学的研究提供了可能。
Prenatal diagnosis of chromosomal abnormalities usually depends on the metaphase split chromosome banding technique. This method is accurate and reliable but time-consuming, generally takes 1 to 2 weeks. Fluorescence in situ hybridization provides a means of rapidly identifying chromosomal abnormalities by analyzing the cells in the interphase. The idea stems from the abnormal chromosomal number identified by Barr’s and Y chromosomes. The various chromosomally-specific probes constructed by molecular biology techniques also make it possible to study the interphase cytogenetics.