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Clinical Chemistry 50: 1706-1707, 2004; 10.1373/clinchem.2004.034157
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(Clinical Chemistry. 2004;50:1706-1707.)
© 2004 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Rapid Determination of {alpha}-Fetoprotein Gene Promoter Mutations in Hereditary Persistence of {alpha}-Fetoprotein

Youssef Alj, Edwin Milgrom and Anne Guiochon-Mantela

1 Laboratoire d’Hormonologie et Biologie Moléculaire Hôpital Bicêtre AP-HP IFR93-Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin-Bicêtre CEDEX, France

aAuthor for correspondence. Fax 33-1-4521-2751; e-mail anne.mantel@bct.ap-hop-paris.fr.

The first 20% of the full text of this article appears below.


To the Editor:

Hereditary persistence of {alpha}-fetoprotein (HPAFP) is an autosomal inherited disorder in which AFP is persistent in adult life. Since the description of the first case in 1983 (1), this clinically benign disorder has been reported in 11 unrelated families [Ref. (2) and references therein]. The molecular mechanism has been identified in four unrelated families (2)(3)(4). It has been related to a –119G>A substitution in the distal hepatocyte nuclear factor-1 binding site of the AFP gene promoter in three families (2)(3)(4) and to a –55C>A substitution in the proximal hepatocyte nuclear factor-1 binding site of the AFP gene promoter in one (2). AFP is a widely used tumor marker. Although HPAFP is a rare disorder, it needs to be considered and differentiated from tumors to avoid . . . [Full Text of this Article]






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