Detection of Hereditary Persistence of α-Fetoprotein by Conformation-sensitive Gel Electrophoresis Analysis

Abstract

types in multiple sclerosis and relationship to disease severity.

Update on the applications and limitations of alpha-fetoprotein for hepatocellular carcinoma

“…The molecular mechanism of HPAFP can differ in unrelated families. Specific heterozygous point mutations are frequently found in the promoter region of the AFP gene related to hepatocyte nuclear factor 1 (HNF1) binding sites[ 92 , 93 ]. These mutations usually result in an increased affinity for HNF1 and subsequently lead to increased AFP promoter activity and AFP gene transcription[ 94 ].…”

Avoiding Harmful Procedures in Patients With Elevated α-Fetoprotein Concentrations

“…1 The molecular cause of hereditary persistence of AFP is frequently found in specific heterozygous point mutations in the promoter of the AFP gene related to hepatocyte nuclear factor 1 binding sites. 12,13 These mutations usually lead to an increased affinity for hepatocyte nuclear factor 1 resulting in an increased AFP promoter activity and AFP gene transcription. In our family, no mutation was found in the AFP gene promoter, but the clinical course and the typical autosomal dominant pattern of inheritance allow establishing the diagnosis on clinical grounds.…”

Rapid Determination of α-Fetoprotein Gene Promoter Mutations in Hereditary Persistence of α-Fetoprotein

“…Detection of the Ϫ119GϾA substitution by conformation-sensitive gel electrophoresis has recently been proposed (5 ). However, this method was designed for detection of the Ϫ119GϾA substitution and not of the second reported mutation (Ϫ55CϾA).…”