Objective: Genetic screening of Maturity Onset Diabetes of the Young (MODY) genes has not been performed in Pakistanso far; albeit MODY genes have been noticed in local population. A relevant research will help to establish a scheme for identification andtreatment of MODY. Data Source: The data source for the subgroup discovery was retrieved from PubMed. Study Design: Family affectedby MODY were contacted personaly for descriptive study. The family history was obtained from the representative members of the familyand pedigree was drawn. Setting: The extensive clinical examination of both patients and their unaffected normal relatives was carried outby expert clinician. Period: Specific primers for region of interest in genomic DNA were designed at the IBGE Islamabad using Primer3during last quarter of 2011. Materials & Methods: Mutation detection was performed followed by pattern discovery using subgroupddiscovery technique. Results: Unidentified MODY genes facilitating the cause of a specific diabetes in European population may play acentral role for diabetes characterized by autosomal dominant transmission in Pakistani population. Exclusion study indicates that there isno linkage to the known loci of MODY. Similarly genetic screening results suggest that no mutation is indicated in this examined family inMODY genes. Conclusion: There may be some environmental factors involved in causing this disease in this family; otherwise thisdisease is due to mutation in other reported MODY genes which are not screened in this study. Subgroup discovery results point out thatall the reported MODY genes have association among themselves revealing 580 patterns.
The ongoing development in new genotyping methods necessitates an
understanding of their potential benefits and limits in terms of pharmacogenomics
utility. We give an overview of technologies that can be used in pharmacogenomics
research and clinical practice in this chapter. The Human Genome Project’s completion
has paved the way for the development of clinical instruments for patient evaluation.
Pharmacogenomics may enable the identification of patients who are most likely to
benefit from a specific drug, as well as those for whom the expense and risk are greater
than the advantages. Both drug therapy’s safety and efficacy may improve. In the
future, genotyping may be used to tailor drug treatment for large groups of individuals,
lowering drug treatment costs and improving therapeutic efficacy and overall health.
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