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Hereditary Persistence of Alpha-Fetoprotein Is Associated with the —119G>A Polymorphism in AFP Gene
Author(s) -
Neha Deshpande,
Radhika Chavan,
Govardhan Bale,
Urmila Steffie Avanthi,
Mohsin Aslam,
Mohan Ramchandani,
D. Nageshwar Reddy,
Vishnubhotla Ravikanth
Publication year - 2017
Publication title -
acg case reports journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.112
H-Index - 4
ISSN - 2326-3253
DOI - 10.14309/crj.2017.33
Subject(s) - medicine , penetrance , alpha fetoprotein , persistence (discontinuity) , gene , fetus , genetics , gastroenterology , bioinformatics , pregnancy , biology , phenotype , geotechnical engineering , engineering , hepatocellular carcinoma
Alpha-fetoprotein (AFP) is a glycoprotein that is produced by the liver and yolk sac during fetal development. Its levels are usually raised in malignant conditions. Hereditary persistence of AFP (HPAFP) is a rare benign condition with elevated levels of AFP. It is inherited in a dominant mode with complete penetrance and is usually not associated with any clinical disability. We report two individuals with elevated levels of AFP harboring the -119G>A polymorphism in the gene. A genetic screening to rule out variants in the gene is advised in cases with unexplained persistent AFP levels to avoid inappropriate treatment and surgical options.

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