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甲胎蛋白的遗传性持续存在与基因中的-119G>A多态性相关。

Hereditary Persistence of Alpha-Fetoprotein Is Associated with the -119G>A Polymorphism in Gene.

作者信息

Deshpande Neha, Chavan Radhika, Bale Govardhan, Avanthi Urmila Steffie, Aslam Mohsin, Ramchandani Mohan, Reddy D Nageshwar, Ravikanth V V

机构信息

Asian Healthcare Foundation, Hyderabad, Telangana, India.

Asian Institute of Gastroenterology, Hyderabad, Telangana, India.

出版信息

ACG Case Rep J. 2017 Mar 1;4:e33. doi: 10.14309/crj.2017.33. eCollection 2017.

Abstract

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.

摘要

甲胎蛋白(AFP)是一种糖蛋白,在胎儿发育过程中由肝脏和卵黄囊产生。其水平在恶性疾病中通常会升高。遗传性甲胎蛋白持续存在(HPAFP)是一种罕见的良性疾病,AFP水平升高。它以显性方式遗传,具有完全外显率,通常与任何临床残疾无关。我们报告了两名AFP水平升高的个体,他们在该基因中存在-119G>A多态性。对于AFP水平持续不明原因升高的病例,建议进行基因筛查以排除该基因的变异,以避免不适当的治疗和手术选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ff0/5340718/f9a0598e8b28/CG-CGCR160165F001.jpg

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