Molecular techniques applied to clinical diagnosis

Abstract

Molecular biology techniques make it possible to get a diagnoses so quickly, make it possible to monitor the progression of a disease, and improve the quality of prognoses. There are many variants to amplify, detect and sequence nucleic acids such as DNA or RNA, depending on clinical suspicions. The most common technique is the polymerase chain reaction (PCR), on which different modifications have been developed to improve the diagnosis and interpretation process, such as: multiplex PCR, RT-PCR, microarrays and sequencing. Next Generation. The objectives of the study focus mainly on recognizing the molecular biology techniques applied in clinical diagnosis, analyzing the most common techniques used to identify alterations in the genome and identifying the different techniques that could be implemented for a better diagnosis. The multiplex PCR technique allows the simultaneous detection of multiple pathogens in a single reaction, which is useful for early diagnosis, showing greater sensitivity than conventional blood cultures. Next generation sequencing is an alternative for the analysis of cytological samples. Allowing to predict the response to treatment and the risk of malignancy in cervical cancer, where frequent mutations have been identified; RT-PCR is the main molecular technique for the detection of SARS-CoV-2, amplifying the E, RdRP and N genes, with high sensitivity and specificity for the same. Comparative genomic hybridization using microarrays is a promising tool for prenatal diagnosis of fetal chromosomal anomalies and genetic diseases, avoiding the need for invasive techniques.