遗传病分子诊断技术临床应用新进展

New Progress in Clinical Application of Molecular Diagnosis of Genetic Diseases

分子诊断为遗传病诊断的重要手段,因其具有直接诊断性、高特异性、灵敏性、早期诊断性的特点,弥补了表型诊断的不足而被广泛应用。遗传病的分子诊断是利用分子遗传学技术在DNA或RNA水平上对某一基因进行突变分析,从而对特定疾病进行诊断。分子诊断技术包括传统的细胞遗传学技术和现代分子诊断技术。常规的细胞遗传学技术包括染色体核型分析、荧光原位杂交技术等,而现代分子诊断技术主要有染色体微阵列分析、一代测序、高通量测序及质谱分析等,每一种技术都有其优缺点,只有将其有效整合,优势互补,才能最大程度识别遗传病的变异类型,真正实现疾病的早发现、早诊断和早治疗,使患者获益。

Molecular diagnosis is an important means of genetic disease diagnosis,which is widely used because of its direct diagnosis,high specificity,sensitivity and early diagnosis to make up for the deficiency of phenotypic diagnosis.Molecular diagnosis of genetic diseases is the use of molecular genetics technology at the DNA or RNA level of a gene mutation analysis,so as to diagnose specific diseases.Molecular diagnostic techniques include traditional cytogenetic techniques and modern molecular diagnostic techniques.Conventional cytogenetic techniques include chromosome karyotype analysis,fluorescence in situ hybridization,etc.,while modern molecular diagnostic techniques mainly include chromosome microarray analysis,first-generation sequencing,high-throughput sequencing and mass spectrometry,etc.Each technique has its advantages and disadvantages.Only by integrating them effectively and complementing each other's advantages,can genetic diseases be identified to the greatest extent,so as to truly realize early detection,diagnosis and treatment of diseases and benefit patients.