A study of most common diseases in consanguineous families

Abstract

Background: Inbreeding has profound and serious consequences for population health. For Mongolians, it might be associated with a heightened risk of experiencing a wide range of health issues, including 19 subclassifications of diseases and 32 different types of cancer as classified by the “International Classification of Diseases X”. Top of Form In our country, the absence of recent detailed research data has made it imperative to undertake this study. To preserve Mongolian genealogy, we’ll conduct genealogical research in consanguineous families to assess consanguinity levels, identify prevalent diseases, and explore DNA-level consanguinity. This will inform healthcare strategies and enhance our understanding of genetic factors. Aim: Our goal is to identify consanguineous families, ascertain the type and extent of consanguinity, and establish the foundations for disease detection and genetic analysis. Materials and Methods: The study, following a snapshot research design, identified consanguineous families through genealogical mapping. The inbreeding coefÏcient was then employed to calculate the degree of consanguinity within the group. Results: Of the total of 32 children born in consanguineous families, 90% of children under 18 years of age and 92% of children over 18 years of age had some disease. When categorizing the diseases that appeared in consanguineous and potentially consanguineous families, they fell into 5 groups. Genetic diseases and congenital developmental defects accounted for 25 cases (42.4%), mental retardation for 45 cases (76.3%), mild cognitive impairment for 7 cases (11.8%), growth retardation for 6 cases (10.2%), and epilepsy for 9 cases (15.3%). Mental retardation emerged as the most prevalent among these groups. Conclusions: As a target group, 185 families from 43 sum’s of 3 provinces were included, and of total, 30.8% was consanguineous families and by genealogical analysis the average coefÏcient of inbreeding was FI=0.088867. Children born in consanguineous families are more likely to have mental retardation alone or in combination with other physical and mental disorders. It is necessary to expand the scope and continuously conduct a detailed study to determine the actual consanguinity among the population of Mongolia based on genealogical analysis methods.