{"title":"1型神经纤维瘤病基因组学研究进展","authors":"Y. Ke, Hong Zhang","doi":"10.3969/J.ISSN.1003-0808.2010.02.023","DOIUrl":null,"url":null,"abstract":"Neurofibromatosis type 1 is a term of Von Recklinghausenan.It is an autosomal dominant inherited disease which derived by neural crest cell.Prevalence of this disease is 1/3000 1/3500 and is a disease with the highest mutation rate.The pathogenesis of neurofibromatosis type 1 is associated with the deficiency of NF1 gene.Recently,the genetics and genomics research of neurofibromatosis make a great progress.With the development of gene linkage and position cloning technology,the gene sequence of neurofibromatosis type 1 has been found.Recent research of genetics and genomics of NF1 and the structure and function,abnormal expression,the relation of genotype and phenotype,the mutation sensitivity domain of NF1 gene were reviewed. \n \nKey words: \nneurofibromatosis type 1; neurofibromatosis gene; genetics; genomics; gene mutation","PeriodicalId":186994,"journal":{"name":"Chinese Ophthalmic Research","volume":"22 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2010-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The advanced genomics research of neurofibromatosis type 1\",\"authors\":\"Y. Ke, Hong Zhang\",\"doi\":\"10.3969/J.ISSN.1003-0808.2010.02.023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Neurofibromatosis type 1 is a term of Von Recklinghausenan.It is an autosomal dominant inherited disease which derived by neural crest cell.Prevalence of this disease is 1/3000 1/3500 and is a disease with the highest mutation rate.The pathogenesis of neurofibromatosis type 1 is associated with the deficiency of NF1 gene.Recently,the genetics and genomics research of neurofibromatosis make a great progress.With the development of gene linkage and position cloning technology,the gene sequence of neurofibromatosis type 1 has been found.Recent research of genetics and genomics of NF1 and the structure and function,abnormal expression,the relation of genotype and phenotype,the mutation sensitivity domain of NF1 gene were reviewed. \\n \\nKey words: \\nneurofibromatosis type 1; neurofibromatosis gene; genetics; genomics; gene mutation\",\"PeriodicalId\":186994,\"journal\":{\"name\":\"Chinese Ophthalmic Research\",\"volume\":\"22 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2010-02-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Chinese Ophthalmic Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3969/J.ISSN.1003-0808.2010.02.023\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Chinese Ophthalmic Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3969/J.ISSN.1003-0808.2010.02.023","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
The advanced genomics research of neurofibromatosis type 1
Neurofibromatosis type 1 is a term of Von Recklinghausenan.It is an autosomal dominant inherited disease which derived by neural crest cell.Prevalence of this disease is 1/3000 1/3500 and is a disease with the highest mutation rate.The pathogenesis of neurofibromatosis type 1 is associated with the deficiency of NF1 gene.Recently,the genetics and genomics research of neurofibromatosis make a great progress.With the development of gene linkage and position cloning technology,the gene sequence of neurofibromatosis type 1 has been found.Recent research of genetics and genomics of NF1 and the structure and function,abnormal expression,the relation of genotype and phenotype,the mutation sensitivity domain of NF1 gene were reviewed.
Key words:
neurofibromatosis type 1; neurofibromatosis gene; genetics; genomics; gene mutation
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