Investigation of the hereditary features of the disease in families diagnosed with ectodermal dysplasia

Ectodermal dysplasia (ED) syndrome is defined as a complex genetic disease characterized by abnormalities in organs originating from ectoderm. ED occurs in three forms: hypohidrotic, anhidrotic, and hidrotic. In a previous study, it was determined that the disease was caused by the mutation occurring in the c.439G>A region in the 6th exon of the EDARADD gene (NM_080738) in a Turkish family. The aim of this study is to detect the EDARADD gene mutation that causes Ectodermal dysplasia (ED) in all families with blood relatives and to determine the carriers. In addition, it is to develop PCR-based methods in order to detect the point mutation in a fast and inexpensive way without the need for sequencing processes. The data to be obtained will help Medical Geneticists to develop prenatal diagnosis methods and provide genetic counseling. In addition, as a result of this study, it is aimed to reduce or completely eliminate the number of congenital ED cases. A total of 61 blood relatives of the previously identified patient volunteer participated in the study. Both RFLP (MnII endonuclease cutting) method and sequencing studies were performed on all volunteers. According to the results obtained, a total of 14 people were determined to be carriers. 46 people were determined to be normal homozygous and one person was determined to be patient. It has been determined that the gene is inherited in an autosomal recessive manner and the gene frequency is in Hardy-Weinberg balance. Key Words: Ectodermal dysplasia, anhidrotic, genetic, mutation, MnII restriction endonuclease