Jornal de Imunologia Clínica e Celular
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Abstrato

Mutational Analysis of DNAse I Gene in Pakistani SLE Patients

Manan A and Hussain N

Systemic Lupus Erythematosus (SLE) is one of the classic examples of autoimmune diseases among human beings and is a rare disease in Pakistani population. Clinically, it is a quite diverse and complicated autoimmune disease in a sense that it involves multiple organs of the body and mimics other diseases as well. Mutational analysis of DNAse I gene exon 8 was performed because most of the mutations were reported in these regions with reference to SLE. Genes were amplified by Step-down PCR technique in order to get the bands of our interest. Extracted DNA bands were sequenced to analyze mutations. Thirteen SLE samples showed a missense mutation in DNAse I gene. The codon CAA changed to CGA (+2373 A>G) so the glutamine amino acid was replaced by arginine at position 244 of Deoxyribonuclease I protein.