LINKAGE ANALYSIS OF FIRST SIX MODY GENES TO KNOWN LOCI AND SCREENING OF THREE MOST PREVALENT MODY GENES IN PAKISTANI POPULATION
Journal Title: International Journal of Genetics - Year 2011, Vol 3, Issue 1
Abstract
The pandemic of metabolic disorders is accelerating in the urbanized world posing huge burden to health and economy. The key pioneer to most of the metabolic disorders is insulin dependent diabetes mellitus or Type 1 Diabetes 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 is Maturity Onset Diabetes of the young (MODY). MODY is a monogenic form of diabetes and it is inherited as autosomal dominant disorder. Its age of onsets is at 14-25 years in individuals who have a strong family history of Type 2 Diabetes Mellitus (T2DM). In most of the MODY patients genes involved in mediating and controlling the expression of insulin are concerned. Till date eleven genes that cause MODY have been identified all over the world. But in Pakistan no genetic research has been done on MODY. The aims of the present study were to examine the prevalence and nature of mutation in three common MODY genes on the basis of their occurrence in European populations. These three MODY genes are HNF4-Alpha, GCK, and HNF1-Alpha. 22 members spanning four generations and 11 affected with MODY in Pakistani population were examined. To determine the linkage or exclusion study of the family to six known loci for MODY, a minimum of two micro satellite markers each of the candidate regions of these loci for MODY were genotyped in all the available individuals of this family. To identify genes involved in susceptibility to MODY and to discover new genes and mutations contributing to MODY in Pakistani population, Single Strand Conformation Polymorphism technique (SSCP) was used. Our findings highlighted that those unidentified MODY genes that facilitate to cause this form of diabetes in European population may play a central role for diabetes characterized by autosomal dominant transmission in Pakistani population.
Authors and Affiliations
K. ATTIYA, F. SAHAR, M. ISMAIL, J. AMARA
Keywords
Related Articles
- EP ID EP170155
- DOI 10.9735/0975-2862.3.1.35-46
- Views 83
- Downloads 0
MOLECULAR GENETICS OF NON-SYNDROMIC CLEFTS REVISITED
Cleft of the lip and palate (CL/P) are generally divided in to two groups, isolated cleft palate and cleft with or without cleft palate representing a heterogeneous group of disorders affecting the upper lip and the roof...
MOLECULAR CHARACTERIZATION OF GROWTH HORMONE RELEASING HORMONE RECEPTOR (GHRHR): CLONING, TISSUE DISTRIBUTION, EXPRESSION ANALYSIS AND HOMOLOGY MODELING IN FARMED CARP, Labeo rohita
Growth hormone releasing hormone receptor (GHRHR) is a trans-membrane receptor belonging to the Class-II GPCR family. GHRHR activates growth-hormone production consequent upon triggering somatotroph proliferation. Unlike...
RICE BREEDING LINES DEVELOPED WITH HIGHLY EFFICIENT SUBMERGENCE TOLERANCE THROUGH ADVANCED SINGLE SEED DESCENT METHOD FOR SEMI-LOWLAND AND -DEEP LOWLAND AREAS
In the present study, sixty-three breeding lines of rice cultivars adapted for semi-lowland and semi-deep lowland areas were developed for submergence tolerance through the single seed descent (SSD) method. In submergenc...
EFFECT OF SALINITY AND DROUGHT STRESS ON GROWTH PARAMETERS, GLYCOSIDE CONTENT AND EXPRESSION LEVEL OF VITAL GENES IN STEVIOL GLYCOSIDES BIOSYNTHESIS PATHWAY OF Stevia rebaudiana (BERTONI)
Stevia [Stevia rebuaidana (Bertoni)], a family of Asteraceae is known to yield diterpenoid steviol glycosides (SGs) that is about 300 times sweeter than sugar. The present work examined the effects of different concentra...
HISTOPATHOLOGICAL STUDIES ON GILLS OF Leiognathus equulus (Perciformes) FROM AL-SHABAB LAGOON, IN JEDDAH PROVINCE
The gills of fish are sensitive to chemical and physical changes in the aquatic environment. Common pony fish Leiognathus equulus was caught from the Red Sea and Al-Shabab lagoon. This study was carried out to investigat...