Isoelectric Focusing and PCR-RFLP Joined Techniques for Alpha۱-antitrypsin Deficiency Detection

۵۳ persons suspected to alpha۱-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/PCR-RFLP techniques. The result clearly shows by using SPE and TIC techniques only ۳۵.۸۵ % and ۵۰.۰۸% of AATD cases can detect respectively while, IEF/PCR-RFLP joined technique can detect ۱۰۰% 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 ۱۰۰% of AAT. Hence for detection of AATD the IEF/PCR-RFLP technique is recommended.

کلیدواژه ها:

isoelectric focusing ، αı ، antitrypsin ، antitrypsin deficiency ، alleles ، PCR ، RFLP