Advances in Molecular Diagnostics

Author: Kartan, Preethi

Brand: Delve Publishing

Binding: hardcover

Format: Import

Number Of Pages: 275

Release Date: 01-11-2017

Details: The human genome study and genetics have emerged as a key concept and important aspect of public health and medicines. The complete characterization of genetic disorders and other related diseases can offer valuable information regarding the diagnosis of the patients. Moreover, the familial mutation identification, may lead to proper genetic counseling within families that may prevent genetic disorders in future pregnancies through possible preimplantation genetic diagnosis or prenatal diagnosis. In recent years the area of clinical molecular diagnostics has evolved considerably with the advances in fundamental research and technologies of human genetics. Earlier, the researchers used to depend on preliminary techniques to assess genetic mutations. Over the years more and more assay techniques were implemented for better utilization of clinical molecular diagnostic. Previously, the assays were usually targeted to more common disorders like cystic ?brosis and hemoglobinopathies using methods linked indirectly to mutation detection by linkage and haplotype analyses. These processes were very laborious, requiring a large amount of DNA from the patients and extensive knowledge of the region of the genome in question. Even then the results acquired were not very easily interpretable. However, those earlier analysis methods given the much-needed foundation for the molecular diagnostics and several of such techniques are still in use. The molecular diagnostic techniques got revolutionized with the advent of PCR or polymerase chain reaction which was first introduced by Mullis et al., 1986. It has the capability to produce numerous copies of any region of the target DNA enabling faster analysis as well as direct identification of mutations. In no time the earlier assays were modified to integrate the use of DNA amplified using PCR instead of the genomic DNA. Gradually, the assays dependent on allele-specific detection are developed into systems with high-throughput allowing

EAN: 0001773611097

Languages: english