Melanie J. Percy, Mary Frances McMullin, Terence R.J. Lappin
{"title":"红细胞增多症患者促红细胞生成素基因3 '缺氧反应元件的序列分析","authors":"Melanie J. Percy, Mary Frances McMullin, Terence R.J. Lappin","doi":"10.1006/bmme.1997.2627","DOIUrl":null,"url":null,"abstract":"<div><p>Erythrocytosis arises from a variety of pathogenic mechanisms. We sequenced a 256-bp region 3′ to the erythropoietin (Epo) gene which included a 24- to 50-bp minimal hypoxia-responsive element spanning HIF-1- and HNF-4-binding sites in 12 patients with erythrocytosis and 4 normal subjects. Four polymorphisms were found, none of which affected the HIF-1-binding site, although one polymorphism was present in the HNF-4 consensus region. The data indicate that none of these polymorphisms cause erythrocytosis.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":"62 1","pages":"Pages 132-134"},"PeriodicalIF":0.0000,"publicationDate":"1997-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2627","citationCount":"17","resultStr":"{\"title\":\"Sequence Analysis of the 3′ Hypoxia-Responsive Element of the Human Erythropoietin Gene in Patients with Erythrocytosis\",\"authors\":\"Melanie J. Percy, Mary Frances McMullin, Terence R.J. Lappin\",\"doi\":\"10.1006/bmme.1997.2627\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Erythrocytosis arises from a variety of pathogenic mechanisms. We sequenced a 256-bp region 3′ to the erythropoietin (Epo) gene which included a 24- to 50-bp minimal hypoxia-responsive element spanning HIF-1- and HNF-4-binding sites in 12 patients with erythrocytosis and 4 normal subjects. Four polymorphisms were found, none of which affected the HIF-1-binding site, although one polymorphism was present in the HNF-4 consensus region. The data indicate that none of these polymorphisms cause erythrocytosis.</p></div>\",\"PeriodicalId\":8837,\"journal\":{\"name\":\"Biochemical and molecular medicine\",\"volume\":\"62 1\",\"pages\":\"Pages 132-134\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1997-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1006/bmme.1997.2627\",\"citationCount\":\"17\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biochemical and molecular medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1077315097926272\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochemical and molecular medicine","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1077315097926272","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Sequence Analysis of the 3′ Hypoxia-Responsive Element of the Human Erythropoietin Gene in Patients with Erythrocytosis
Erythrocytosis arises from a variety of pathogenic mechanisms. We sequenced a 256-bp region 3′ to the erythropoietin (Epo) gene which included a 24- to 50-bp minimal hypoxia-responsive element spanning HIF-1- and HNF-4-binding sites in 12 patients with erythrocytosis and 4 normal subjects. Four polymorphisms were found, none of which affected the HIF-1-binding site, although one polymorphism was present in the HNF-4 consensus region. The data indicate that none of these polymorphisms cause erythrocytosis.
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