荧光原位杂交技术在产前诊断中的应用

Application of Fluorescence in Situ Hybridization in Prenatal Diagnosis

染色体病在目前尚无有效治疗方法,产前诊断是防止染色体病患儿出生的有效措施。随着分子生物学技术的发展,荧光原位杂交(fluorescence in situ hybridization,FISH)技术已逐渐成为解决复杂染色体异常的一种重要方法,染色体特异重复序列探针、全染色体或染色体区域特异性探针、特异性位置探针、端粒或亚端粒探针等多种FISH DNA探针的出现,提高了染色体病的检出率。FISH技术灵敏度高、特异性强、操作简便、实验周期短,在降低染色体病发病率、预防患儿出生方面发挥巨大作用,是产前诊断的重要工具。

There is no effective therapeutic method for chromosomal disease at present. Prenatal diagnosis is a valid measurement to prevent the birth of babies with chromosomal diseases. With the development of molecular biology techniques, fluorescence in situ hybridization （FISH） has become an important method to resolve the complex issue of chromosome abnormality. Since the advent of various FISH DNA-probes, such as chromosome-specific repetitive probes, whole chromosome- and domain-specific probes, unique gene sequences probes, as well as telomere or subtelomere probes, the detection rate of chromosomal disease has improved markedly. FISH plays important roles in reducing incidence rate of chromosomal disease, and preventing the birth of sick babies, which will be an important way of prenatal diagnosis with its high sensibility and specificity, simple procedure and short experimental cycle.