Pedigree Analysis of Genetic Mutation in Human Families of District Karak Khyber Pakhtunkhwa Pakistan

Diabetes mellitus and albinism are two distinct genetic conditions that have been observed in human populations, including families in the District of Karak. This study aims to explore the prevalence and genetic mutations associated with these conditions within this specific demographic. Diabetes mellitus, characterized by chronic hyperglycemia and insulin resistance, has a multifactorial etiology with both genetic and environmental components. Albinism, on the other hand, results from mutations in genes responsible for melanin production, leading to hypopigmentation of the skin, hair, and eyes. Diabetes Mellitus is more common in adult as compared to children. During diabetes Mellitus the patient show lot of symptoms such as weight loss, polyuria, polydipsia sometime with blurred vision and polyphagia etc. are reported in patient of diabetes mellitus second disorder which we studied is Albinism which is a heterogeneous group of autosomal recessive disorder which is mainly characterized by abnormalities low amount of melanin in the skin, hair, eyes etc. It means that if the melanin are not produced in sufficient amount it will cause albinism this diseases is very rare but it is mainly caused by different gene mutation. The people with oculocutaneous albinism have pale skin, sandy colour hair, light brown eyes, nystgmus and poor visual activies. Genetic studies of albinism reported that seven non-syndromic OCA genes among which mutation in TYR and OCA genes mutation is mainly reported. This research project was aimed to study pedigree analysis of genetic mutation for autosomal dominant diabetes mellitus and X-linked autosomal recessive albinism in human families of district karak. The two family have been reported one of diabetes mellitus and one of albinism so the detail interviewed were conducted with all the affected individual their parents and normal individual of the family. Pedigree analysis and family tree was drawn to check the linkage for results.