Year 2012, Volume 4 , Issue 2, Pages 1 - 19 2012-05-26

Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences


Human alpha-fetoprotein (AFP) is a 70 kD tumor-associated fetal protein (oncofetal protein) which has been utilized clinically as a biomarker for both multiple cancers and for fetal defects including neural tube defects and chromosomal abnormalities. Extreme low and high levels of serum AFP in conjunction with gene mutations have now been established in disorders such as congenital deficiency (CD) and hereditary persistence (HP) of AFP. The objectives of the present review are to compare the clinical manifestations and analyze the mutational basis of these two AFP genetic disorders in accordance with presently accepted models of AFP gene regulation. The regulatory elements of AFP gene expression i.e., enhancers, promoters, and silencers are described in light of the genetic alterations expressed by the CD- and HP-AFP patients. By use of structure/function peptide mapping of the full-length AFP amino acid sequence, the potential biomedical consequences exhibited by CD-AFP and HP-AFP patients are presented and discussed. A new prospective on placental dysfunction in these AFP genetic disorders has also been introduced. Using AFP reference levels in maternal serum, cord blood, newborn blood, pediatric and adult serum, AFP serum concentrations are presented that could alert the obstetrician of potential CD-AFP during pregnancy. Knowledge of such serum values could provide tools to allow clinicians to distinguish between adult HP-AFP and malignant/non-malignant diseases such as liver and germ cell tumors, cirrhosis, hepatitis, and various liver disorders. Knowledge of AFP reference levels might serve to guide the clinician in avoiding: a) misguided diagnoses; b) unnecessary treatments and therapies; and c) undue anxieties and stress during pregnant and non-pregnant states.
alpha-fetoprotein, genetic disorder, autosomal recessive, autosomal dominant, gene mutation, pedigree, deficiency, persistence
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Journal Section Reviews

Author: Gerald MİZEJEWSKİ


Publication Date : May 26, 2012

Bibtex @ { jps202217, journal = {Journal of Pediatric Sciences}, issn = {}, eissn = {1309-1247}, address = {}, publisher = {Bilal YILDIZ}, year = {2012}, volume = {4}, pages = {1 - 19}, doi = {10.17334/jps.81128}, title = {Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences}, key = {cite}, author = {Mi̇zejewski̇, Gerald} }
APA Mi̇zejewski̇, G . (2012). Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences . Journal of Pediatric Sciences , 4 (2) , 1-19 . Retrieved from
MLA Mi̇zejewski̇, G . "Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences" . Journal of Pediatric Sciences 4 (2012 ): 1-19 <>
Chicago Mi̇zejewski̇, G . "Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences". Journal of Pediatric Sciences 4 (2012 ): 1-19
RIS TY - JOUR T1 - Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences AU - Gerald Mi̇zejewski̇ Y1 - 2012 PY - 2012 N1 - DO - T2 - Journal of Pediatric Sciences JF - Journal JO - JOR SP - 1 EP - 19 VL - 4 IS - 2 SN - -1309-1247 M3 - UR - Y2 - 2021 ER -
EndNote %0 Journal of Pediatric Sciences Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences %A Gerald Mi̇zejewski̇ %T Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences %D 2012 %J Journal of Pediatric Sciences %P -1309-1247 %V 4 %N 2 %R %U
ISNAD Mi̇zejewski̇, Gerald . "Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences". Journal of Pediatric Sciences 4 / 2 (May 2012): 1-19 .
AMA Mi̇zejewski̇ G . Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences. Journal of Pediatric Sciences. 2012; 4(2): 1-19.
Vancouver Mi̇zejewski̇ G . Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences. Journal of Pediatric Sciences. 2012; 4(2): 1-19.
IEEE G. Mi̇zejewski̇ , "Congenital Deficiency versus Hereditary Persistence of Human Alpha-fetoprotein: A Meta-analysis and Overview of Potential Biomedical Consequences", Journal of Pediatric Sciences, vol. 4, no. 2, pp. 1-19, May. 2012, doi:10.17334/jps.81128