染色体12q15-q23中间缺失和周边角膜异常患者的临床和分子特征  

Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities

作　　者：Tocyap M. L. Azar N. Chen T. Wiggs J. 安胜(译) 

机构地区：[1]不详 [2]Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, United States

出　　处：《世界核心医学期刊文摘（眼科学分册）》2006年第6期12-12,共1页Digest of the World Core Medical Journals:Ophthalmology

摘　　要：PURPOSE: To describe the ocular features of a patient with an interstitial deletion of chromosome 12 and to determine the molecular boundaries of the deletion. DESIGN: Observational case report and laboratory investigation. METHODS: A patient with an interstitial deletion of chromosome 12 was clinically examined for ocular abnormalities. DNA samples were used for molecular studies to define the deletion boundaries. RESULTS: Ocular examination showed abnormalities of the anterior segment consistent with a diagnosis of cornea plana. Molecular analyses showed the deletion included the KERA gene,the SLRP (small leucine repeat protein) gene cluster,the genetic loci for autosomal-dominant (CNA1) and autosomalrecessive (CNA2) cornea plana,and a portion of the mapped locus for high myopia (MYP3). CONCLUSIONS: These results,combined with previous genetic linkage studies,identifies a 3-cM region located between microsatellite markers D12S82 and D12S351 that is likely to contain a gene responsible for CNA1.PURPOSE： To describe the ocular features of a patient with an interstitial deletion of chromosome 12 and to determine the molecular boundaries of the deletion. DESIGN： Observational case report and laboratory investigation. METHODS： A patient with an interstitial deletion of chromosome 12 was clinically examined for ocular abnormalities. DNA samples were used for molecular studies to define the deletion boundaries. RESULTS： Ocular examination showed abnormalities of the anterior segment consistent with a diagnosis of cornea plana. Molecular analyses showed the deletion included the KERA gene, the SLRP （small leucine repeat protein） gene cluster, the genetic loci for autosomal-dominant （CNA1） and autosomalrecessive （CNA2） cornea plana, and a portion of the mapped locus for high myopia （MYP3） . CONCLUSIONS： These results, combined with previous genetic linkage studies, identifies a 3-cM region located between microsatellite markers D12S82 and D12S351 that is likely to contain a gene responsible for CNA1.

关 键 词：常染色体隐性遗传 分子特征 临床检查 膜异常 患者 常染色体显性遗传 ERA基因 周边 失和 中间缺失 

分 类 号：R742.4[医药卫生—神经病学与精神病学] R378.3[医药卫生—临床医学]