Molecular Analysis of Biomolecules Pertaining to the Diagnosis of a Human Genetic Disorder: Lesch Nyhan Syndrome

Molecular analysis of biomolecules has been applied in many areas of research into different genetic disorders. Genomic DNA (Deoxyribonucleic acid) is the molecule of choice for such analyses. This report summarizes the activities carried out in the molecular analysis for the diagnosis of genetic disorders. Emphasis is put on the Lesch-Nyhan syndrome, which is a genetic disorder of purine metabolism. The genomic DNA used in this practical was extracted from the fibroblasts of breast cancer cells individuals (MRC5), normal cells (MCF7), and fibroblasts from Lesch-Nyhan patients (SALMAT/LN). The concentration of the three DNA samples was determined by the use of spectrophotometer and Nanodrop method. The absorbance values recorded were used in the calculation of the concentration and purity of the DNA samples. The samples were then optimized by fragmentation using a Bioruptor sonicating water bath. The DNA fragments were separated on a 1% agarose gel by electrophoresis. However, the experimental findings were not in accordance with the results reported in similar research studies on Lesch-Nyhan disorder. The deviation can be explained by various factors that ought to be controlled to ensure accurate analysis of biomolecules. Nevertheless, the diagnostic approaches based on molecular genetics enable clinicians to select an appropriate test for each patient, generating clinically relevant and optimal results required to define a treatment strategy for patients.

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