{"title":"应用生物信息学工具进行血色素沉着病的分子遗传学研究","authors":"R. K. Mishra","doi":"10.21786/bbrc/15.3.7","DOIUrl":null,"url":null,"abstract":"Hemochromatosis is caused by p.Cys282Tyr mutations in HFE. This study’s objective was to find causal or disease-related variations in people with erythrocytosis of unknown origin who came from a family with clear blood markers and other indicators of congenital erythrocytosis. This research aims to create a new hemochromatosis risk prediction prototype and evaluate psychographic, clinical, and genomic data to improve predictive model performance. In this review, a conditional characterization of primary iron overload, secondary iron overload, and hemochromatosis medical history is established, as well as an analysis of the drug molecules used to treat hemochromatosis. This paper provides Hemochromatosis Gene brand and its operation.","PeriodicalId":9156,"journal":{"name":"Bioscience Biotechnology Research Communications","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular Genetic of Hemochromatosis Disease using Bioinformatics Tools\",\"authors\":\"R. K. Mishra\",\"doi\":\"10.21786/bbrc/15.3.7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hemochromatosis is caused by p.Cys282Tyr mutations in HFE. This study’s objective was to find causal or disease-related variations in people with erythrocytosis of unknown origin who came from a family with clear blood markers and other indicators of congenital erythrocytosis. This research aims to create a new hemochromatosis risk prediction prototype and evaluate psychographic, clinical, and genomic data to improve predictive model performance. In this review, a conditional characterization of primary iron overload, secondary iron overload, and hemochromatosis medical history is established, as well as an analysis of the drug molecules used to treat hemochromatosis. This paper provides Hemochromatosis Gene brand and its operation.\",\"PeriodicalId\":9156,\"journal\":{\"name\":\"Bioscience Biotechnology Research Communications\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-09-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bioscience Biotechnology Research Communications\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21786/bbrc/15.3.7\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bioscience Biotechnology Research Communications","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21786/bbrc/15.3.7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Molecular Genetic of Hemochromatosis Disease using Bioinformatics Tools
Hemochromatosis is caused by p.Cys282Tyr mutations in HFE. This study’s objective was to find causal or disease-related variations in people with erythrocytosis of unknown origin who came from a family with clear blood markers and other indicators of congenital erythrocytosis. This research aims to create a new hemochromatosis risk prediction prototype and evaluate psychographic, clinical, and genomic data to improve predictive model performance. In this review, a conditional characterization of primary iron overload, secondary iron overload, and hemochromatosis medical history is established, as well as an analysis of the drug molecules used to treat hemochromatosis. This paper provides Hemochromatosis Gene brand and its operation.