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

The concentration of human α-fetoprotein (AFP; MIM 104150) is used as a marker for several diseases in both adults and children, and it is also systematically measured in pregnant women as a marker of defects in the fetus. In 1983, a case was discovered of a woman with high AFP expression that was shown to be attributable to a benign autosomal dominant genetic trait, hereditary persistence of AFP (HPAFP) (1). This syndrome shows high expression of AFP, but there is no association with any pathology. Failure to recognize HPAFP can lead to unsuitable treatments. For example, a 20-month-old child with HPAFP underwent surgery for a testicular germ cell tumor (2). In one family, all affected members exhibited an identical …