染色体病的分子诊断

Molecular diagnosis of chromosomal disorder

染色体数目或者结构的异常是导致染色体病的物质基础。随着人类基因组计划(HGP)的成功完成以及结构基因组学、功能基因组学等学科的发展,高通量测序、PCR技术、生命科学领域的基因芯片技术与生物信息学技术相结合,使染色体病的研究日益深入,染色体病的检测方法也日益增多。新的分子诊断技术以其高灵敏度、高准确性和高通量的特点在染色体疾病的检验和诊断中应用越来越广泛,目前已逐步与传统的细胞遗传学分析相互结合、互为印证,共同实现对染色体疾病的实验室诊断。该文就染色体病的分子诊断技术及临床应用进行述评。

Variation in the number or structure of chromosomes is the material basis for chromosomal diseases.With the successful completion of the human genome project(HGP)and the development of structural genomics,functional genomics and other disciplines,combined such as high-throughput sequencing,PCR technique,gene chip technology in the field of life science with bioinformatics technology,chromosomes research is increasingly in-depth and chromosome disease detection is also increasing.The new molecular diagnostic technology,with its characteristics of high sensitivity,high accuracy and high throughput,has been widely used in the detection and diagnosis of chromosomal diseases.This paper reviews the molecular diagnostic technology of chromosomal diseases.