{"title":"人类基因组的解剖。","authors":"V A McKusick","doi":"10.1080/21548331.1981.11946756","DOIUrl":null,"url":null,"abstract":"<p><p>Although perhaps only 1% of the human genome has been mapped, the clinical yield is already quite impressive. This yield includes the ability to palliate some genetic diseases pharmacologically or by environmental manipulation. We can also derive critical information on which to base decisions on termination of pregnancy. Antenatal repair of a flawed genome may well lie in the near future.</p>","PeriodicalId":79221,"journal":{"name":"Hospital practice (Hospital ed.)","volume":"16 4","pages":"82-100"},"PeriodicalIF":0.0000,"publicationDate":"1981-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21548331.1981.11946756","citationCount":"47","resultStr":"{\"title\":\"The anatomy of the human genome.\",\"authors\":\"V A McKusick\",\"doi\":\"10.1080/21548331.1981.11946756\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Although perhaps only 1% of the human genome has been mapped, the clinical yield is already quite impressive. This yield includes the ability to palliate some genetic diseases pharmacologically or by environmental manipulation. We can also derive critical information on which to base decisions on termination of pregnancy. Antenatal repair of a flawed genome may well lie in the near future.</p>\",\"PeriodicalId\":79221,\"journal\":{\"name\":\"Hospital practice (Hospital ed.)\",\"volume\":\"16 4\",\"pages\":\"82-100\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1981-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1080/21548331.1981.11946756\",\"citationCount\":\"47\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hospital practice (Hospital ed.)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/21548331.1981.11946756\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hospital practice (Hospital ed.)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/21548331.1981.11946756","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Although perhaps only 1% of the human genome has been mapped, the clinical yield is already quite impressive. This yield includes the ability to palliate some genetic diseases pharmacologically or by environmental manipulation. We can also derive critical information on which to base decisions on termination of pregnancy. Antenatal repair of a flawed genome may well lie in the near future.