Highly frequent pathogenic mutation in the CD200R1 gene in population of MS affected women in Khuzestan province

Multiple sclerosis is an inflammatory neuromuscular disease in which the myelin sheaths of the neural cells are damaged in the brain and spinal cord. Aside from environmental factors, MS disease can be a result of genetic impairment. This study examined the frequency of p.H182fs mutation in the CD200R1 gene, which was observed in a MS affected identical twin by whole exome sequencing. For this purpose, 50 unrelated women with MS disease and 50 healthy women with negative history for neurodegenerative disorders in their families and relatives were selected to examine the frequency of the detected change. After extracting the genome and designing the primer, amplification of desired exon was performed by PCR resulting to a bp243 fragment containing the mutation p.H182fs. PCR product was sequenced by Sanger method, subsequently. The mutation was present in 32% of patients in homozygous or heterozygous mode. No healthy women showed the mentioned mutation. This implies the achievement of the CD200R1 gene as one of the candidates for MS pathogenesis, at least for a part of patients in province Khuzestan.