Screening of GHRHR and Npr2 genes as a genetic contributors of dwarfism in familial dwarfism of Khyber Pakhtunkhwa, Pakistan

摘要

Dwarfism is a condition characterized by abnormal growth of body. In this condition, the parts of the body which have direct role in height like cartilages, bones and tendons, remain under developed. On the basis of tissues or cell suffering, dwarfism has been identified in large number of people have prevalence up to 200 such as achondroplasia, hypoachondroplasia, skeletal dysplasia, and simple dysplasia. Several factors for example hormones, genes involved in body growth, and even an environment have been studied as a cause of dwarfism. Some of the genes that are identified in individuals with dwarfism are GH, FGHR3, PNCT and GHRHR. This study was designed to investigate some of the important genes in three consanguineous families A, B and C. Different information such as pedigree construction, clinical features and reports of the patients were obtained. All the families were having autosomal recessive mode of inheritance of dwarfism. Techniques of Thermal Cycler and 2D gel electrophoresis were used for this analysis. The genotyping results of the families A, B and C, showed no linkage for the specific loci of the two genes. From the above study it may be concluded that this was the first report on the analysis of GHRHR gene as well as the subject samples of the District Karak, Khyber Pakhtunkhwa, Pakistan.