HNF-1 binding point mutation of the AFP gene promotes cirrhosis in post-menopausal women
العنوان: | HNF-1 binding point mutation of the AFP gene promotes cirrhosis in post-menopausal women |
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المؤلفون: | Jingwen Wang, Shuyu Zhang, Chen Lin, Qicai Liu, Yong Chen, Feng Gao, Guozhong Liu, Yujia Guo, Donghong Li, Xingting Chen |
المصدر: | The International Journal of Biological Markers. 35:41-46 |
بيانات النشر: | SAGE Publications, 2020. |
سنة النشر: | 2020 |
مصطلحات موضوعية: | Adult, Liver Cirrhosis, Male, Cancer Research, Cirrhosis, Clinical Biochemistry, Cell, Endogeny, Post menopausal, medicine.disease_cause, Pathology and Forensic Medicine, medicine, Humans, Point Mutation, Promoter Regions, Genetic, Gene, Retrospective Studies, business.industry, Point mutation, Liver Neoplasms, Embryonic Stage, Middle Aged, medicine.disease, digestive system diseases, Pedigree, Postmenopause, medicine.anatomical_structure, Oncology, Hepatocyte Nuclear Factor 1, embryonic structures, Cancer research, Female, alpha-Fetoproteins, business, Carcinogenesis |
الوصف: | Objective: α-fetoprotein (AFP) expression is activated during the embryonic stage or hepatocellular carcinogenesis, so it is presumed that AFP is a key endogenous molecule to promote cell proliferation or differentiation. We carried out gene screening in an unknown family with hyper-alpha-fetoproteinemia and some sporadic menopausal women, and discussed the relationship between AFP expression and liver cirrhosis. Methods: Peripheral blood samples from family members, patients with malignant liver tumors, and normal controls were collected. Full-length sequence of AFP was amplified and directly sequenced, and compared with normal controls. HNF-1α and HNF-1β in plasma levels of family members, patients with liver cancer, newborns, pregnant women, and normal subjects were detected by ELISA, and the relationship between HNF-1 and AFP mutation or high expression was evaluated. Results: There was a mutation in AFP promoter region at c.-200 C>T, which was located at the binding site of AFP hepatocyte nuclear factor 1 (HNF-1). AFP was higher than 4000 ng/L in all members carrying the mutation, but liver cancer was excluded in the family with hyper-alpha-fetoprotein. However, cirrhosis occurred in post-menopausal women. The cases reviewed showed that unknown hyper-alpha-fetoprotein was closely related to HNF-1 binding point of AFP in post-menopausal women with cirrhosis (7/11), while the plasma levels of HNF-1α and HNF-1β were not significantly different. Conclusion: The mutation of the HNF-1 binding point of AFP may lead to an abnormal high expression of AFP by altering the binding of HNF transcription factors, which is closely related to cirrhosis in menopausal women. |
تدمد: | 1724-6008 |
الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::531799af8735cec1f2ee58063a8c486bTest https://doi.org/10.1177/1724600819900510Test |
حقوق: | OPEN |
رقم الانضمام: | edsair.doi.dedup.....531799af8735cec1f2ee58063a8c486b |
قاعدة البيانات: | OpenAIRE |
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