Abstract
Proteolytic enzymes play a significant role in malignancy including, loss of growth regulation, invasiveness and metastases formation. Alpha-1 antitrypsin (A1AT) is a secretory glycoprotein produced mainly in liver and monocytes. It is the most abundant serine protease inhibitor in human plasma. Deficiency of A1AT is an inherited disorder characterized by reduced serum level of A1AT. Protease inhibitor Z (PiZ) and protease inhibitor S (PiS) are the most common deficient genotypes of A1AT. The association of deficient A1AT subtypes with several tumors such as primary liver carcinoma, lung cancer, bladder cancer and malignant hepatoma was reported. This study was aimed to test the relationship between A1AT genotypes Z and S and breast cancer in Jordanian female patients. Blood samples were collected from 111 patients. DNA was isolated and polymerase chain reaction (PCR) was performed to amplify the regions contain the Z and S mutations in exon V, and III, respectively. Genotyping of Z and S alleles was performed by restriction fragment length polymorphism technique using Taq1 restriction enzyme. Our results demonstrated that 100% of the breast cancer patients were homozygous for the normal allele Protease inhibitor MM (PiMM) and no PiZ and PiS genotypes were found. In conclusion, there is no relationship between A1AT deficient genotypes Z and S and breast cancer in Jordanian female patients.
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