Risk Assessment of X-Chromosomal Recessive Inheritance using Bayesian Approach: A Simulation Study

Abstract

The main objectives of this study were to extract characteristics and to examine the transmission of a trait (disease) through X-linked recessive inheritance patterns in families. The assessment of the risk of inheriting a specific genotype, based on frequentist and Bayesian techniques as well as a comparison between the two approaches, which was the additional objective. To fulfil the objectives, data were simulated for six families, which were then subdivided into three cases. Pedigree analyses were done for the three cases with genotypes and genotypic probability, which was based on the frequentist approach.  The genotypic probability for a particular individual remained consistent regardless of family size for a certain set of parents. In the case which was consisted of two families with 28 individuals over six generations, the Bayesian approach was also applied to assess the probability of affected status for a particular individual where the individual had 5% lower probability of being affected male, unaffected male, or carrier female using the Bayesian approach than the frequentist (genotypic) approach, whereas 15% higher probability was found by using the Bayesian approach than the frequentist approach of being unaffected female.