Pi subtyping by isoelectric focusing: Further genetic studies and application to paternity examinations

✍ Scribed by Weidinger, S. ;Schwarzfischer, F. ;Cleve, H.

• Book ID: 104660850
• Publisher: Springer-Verlag
• Year: 1980
• Tongue: English
• Weight: 657 KB
• Volume: 86
• Category: Article
• ISSN: 1437-1596
• DOI: 10.1007/bf00200971

✦ Synopsis

Genetic variation of the protease inhibitor (Pi) a~-antitrypsin was analyzed by isoelectric focusing on polyacrylamide gels in a sample of 347 unrelated individuals from Southern Germany. Six common subtypes of PiM were observed as well as the relatively frequent variants Pi S and Pi Z and the rare variants PiT, Pi< L, PiL, PiI and PiF. Also, a variant called PiZ1 was found. The frequency of alleles in this sample was Pi T M = 0.6917, pi~2= 0.1686,

• M 3 Pl =0.0865, pis=0.0230, PiZ=0.0187, and Pi*=0.0115. In 82 families the distribution of Pi types was in agreement with an autosomal codominant mode of inheritance. The application of Pi classification in cases of disputed paternity is discussed.