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LINKAGE ANALYSIS OF FIRST SIX MODY GENES TO KNOWN LOCI AND SCREENING OF THREE MOST PREVALENT MODY GENES IN PAKISTANI POPULATION

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Author(s): ATTIYA K, SAHAR F, ISMAIL M, QAISAR M and AMARA J

Journal: International Journal of Genetics
ISSN 0975-2862

Volume: 3;
Issue: 1;
Start page: 35;
Date: 2011;
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Keywords: MODY- Maturity onset diabetes of the young | T1DM- Type 1 Diabetes Mellitus | T2DM- Type 2 Diabetes Mellitus | SSCP- Single strand conformational polymorphism

ABSTRACT
The pandemic of metabolic disorders is accelerating in the urbanized world posing huge burden to healthand economy. The key pioneer to most of the metabolic disorders is insulin dependent diabetes mellitus or Type 1Diabetes Mellitus (T1DM) and non-insulin dependent diabetes mellitus commonly known as Type 2 Diabetes Mellitus(T2DM). Both of these forms of diabetes are polygenic and multifactorial. A newly discovered form of diabetes isMaturity Onset Diabetes of the young (MODY). MODY is a monogenic form of diabetes and it is inherited as autosomaldominant disorder. Its age of onsets is at 14-25 years in individuals who have a strong family history of Type 2Diabetes Mellitus (T2DM). In most of the MODY patients genes involved in mediating and controlling the expression ofinsulin are concerned. Till date eleven genes that cause MODY have been identified all over the world. But in Pakistanno genetic research has been done on MODY. The aims of the present study were to examine the prevalence andnature of mutation in three common MODY genes on the basis of their occurrence in European populations. Thesethree MODY genes are HNF4-Alpha, GCK, and HNF1-Alpha. 22 members spanning four generations and 11 affectedwith MODY in Pakistani population were examined. To determine the linkage or exclusion study of the family to sixknown loci for MODY, a minimum of two micro satellite markers each of the candidate regions of these loci for MODYwere genotyped in all the available individuals of this family. To identify genes involved in susceptibility to MODY and todiscover new genes and mutations contributing to MODY in Pakistani population, Single Strand ConformationPolymorphism technique (SSCP) was used. Our findings highlighted that those unidentified MODY genes that facilitateto cause this form of diabetes in European population may play a central role for diabetes characterized by autosomaldominant transmission in Pakistani population.
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