و بيماران مبتلا به هپاتيت اتوايميون ، طي سالهاي 83-1382 CD 45 در ژن كد كننده C77G بررسي ارتباط جهش

C77g muatation in CD45 gene and autoimmune hepatitis

Background: Autoimmune hepatitis is an Autoimmune chronic inflammation of the liver with unknown cause. CD45 is a membrane PTPase, which is required for the intiation of T and B cell signaling events. CD45RA and CD45RO are members of CD45 family, which are expressed on the naive T lymphocytes and primed population of memory T lymphocytes respectively. Recently abnormal CD45 splicing, caused by a C77G mutation in exon 4 (exon A) of the gene encoding CD45 was associated with the development autoimmune hepatitis. So we investigated the frequency of this mutation in Iranian patients with Autoimmune hepatitis and controls. Materials and methods:ln this study we investigated the frequency of this mutation in a case-control study between 70 patients with AIH (49 female, 21 male) and 140 healthy blood donors (89 female, 51 male) matched by sex and age. Extracted genomic DNA was amplified by MspI restriction enzyme. Results: Mean age±SD of cases and controls were 35.3+11.5 and 35.3+14.5 respectively. None of the cases was hetero or homozygote for this mutation; however one of the controls was heterozygote for C77G mutation. Conclusion: We conclude that there is no association between C77G polymorphism and AIH at least in Iranian patients; howeve, there is no data on the frequency of this polymorphism in our population. It appears that either polymorphism is a rather new one or the founder popluation for this polymorphism restricted to Caucasian to Germany.