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 the mouth. Non-syndromic cleft lip and palate incidence is 1 in 700 to 1000 live babies with ethnic and geographic variations. Various independent association and linkage studies using different populations have identified several loci. Numerous genes have been reported in studies demonstration associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factor, growth factor, cell signalling and detoxification metabolisms. Currently, efforts are focussed to identify the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype. In conclusion, the genetic basis of CL/P is still contentious because of genetic complexity of clefting.

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.