Isoelectric Focusing and PCR-RFLP Joined Techniques for Alpha1-antitrypsin Deficiency Detection

Abstract

Summary 53 persons suspected to alpha1-antitrypsin deficiency detection (AATD) were investigated for ZZ, MZ, ZS, SS, and MS alleles analysis by serum protein electrophoresis (SPE), measurement of trypsin inhibiting capacity (TIC), isoelectric focusing (IEF), polymerase chain reaction (PCR), and IEF/PCRRFLP techniques. The result clearly shows by using SPE and TIC techniques only 35.85 % and 50.08% of AATD cases can detect respectively while, IEF/PCR-RFLP joined technique can detect 100% of AATD cases. However, since IEF/PCR-RFLP joined technique can determine the protein structure and alleles gene mutation together, they can detect up to 100% of AAT. Hence for detection of AATD the IEF/PCR-RFLP technique is recommended.