MODY GENES;

LINKAGE ANALYSIS AND SUBGROUP DISCOVERY FROM TEXT DOCUMENTS

Abstract

Objective: Genetic screening of Maturity Onset Diabetes of the Young (MODY) genes has not been performed in Pakistan
so far; albeit MODY genes have been noticed in local population. A relevant research will help to establish a scheme for identification and
treatment of MODY. Data Source: The data source for the subgroup discovery was retrieved from PubMed. Study Design: Family affected
by MODY were contacted personaly for descriptive study. The family history was obtained from the representative members of the family
and pedigree was drawn. Setting: The extensive clinical examination of both patients and their unaffected normal relatives was carried out
by expert clinician. Period: Specific primers for region of interest in genomic DNA were designed at the IBGE Islamabad using Primer3
during last quarter of 2011. Materials & Methods: Mutation detection was performed followed by pattern discovery using subgroupd
discovery technique. Results: Unidentified MODY genes facilitating the cause of a specific diabetes in European population may play a
central role for diabetes characterized by autosomal dominant transmission in Pakistani population. Exclusion study indicates that there is
no linkage to the known loci of MODY. Similarly genetic screening results suggest that no mutation is indicated in this examined family in
MODY genes. Conclusion: There may be some environmental factors involved in causing this disease in this family; otherwise this
disease is due to mutation in other reported MODY genes which are not screened in this study. Subgroup discovery results point out that
all the reported MODY genes have association among themselves revealing 580 patterns.