Genetic analysis in consanguineous families from Palestine : a focus on cystic fibrosis and osteogenesis imperfecta

The Palestinian population as well as other Arabic populations in the middle east were reported to show one of the highest consanguinity rates worldwide. In such populations consanguinity is a rooted and widely respected cultural trait although in the last decade reduced rates of consanguineous marriages were reported as a result of better and higher educational levels. In middle eastern societies including the Palestinians, the main consequence of high consanguinity rates is the increased prevalence of Autosomal Recessive (AR) genetic disorders. In this PhD study, we focused on two different genetic disorders to contribute in estimating consanguinity rates and evaluating the prevalence of specific genes and pathogenic variants in the Palestinian population. The first genetic disorder is Cystic Fibrosis (CF) which is a relatively frequent AR disorder among Caucasians but less frequent among other populations. The second genetic disorder is Osteogenesis Imperfecta (OI), a rare heterogeneous connective tissue disorder characterized by an increased incidence of fractures, significant growth deficiency, and skeletal deformities