将成人型原发性开角型青光眼的一个基因定位到3号染色体长臂。
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.
作者信息
Wirtz M K, Samples J R, Kramer P L, Rust K, Topinka J R, Yount J, Koler R D, Acott T S
机构信息
Department of Ophthalmology, Oregon Health Sciences University, Portland 97201-4197, USA.
出版信息
Am J Hum Genet. 1997 Feb;60(2):296-304.
Abstract
Glaucoma is the third-leading cause of blindness in the world, affecting >13.5 million people. Adult-onset primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is inherited as an autosomal dominant trait. Twelve affected family members were identified from 44 at-risk individuals. The disease-causing gene was mapped to chromosome 3q21-24, with analysis of recombinant haplotypes suggesting a total inclusion region of 11.1 cM between markers D3S3637 and D3S1744. This is the first report of mapping of an adult-onset POAG gene to chromosome 3q, gene symbol GLC1C.
摘要
青光眼是全球第三大致盲原因，影响着超过1350万人。成人发病的原发性开角型青光眼（POAG）是美国最常见的青光眼类型。我们报告了一个家系，其中成人发病的POAG以常染色体显性性状遗传。从44名高危个体中鉴定出12名患病家庭成员。致病基因被定位到3号染色体q21 - 24区域，重组单倍型分析表明，标记D3S3637和D3S1744之间的总包含区域为11.1厘摩。这是首次将成人发病的POAG基因定位到3号染色体q区域的报告，基因符号为GLC1C。
相似文献
1
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.将成人型原发性开角型青光眼的一个基因定位到3号染色体长臂。
Am J Hum Genet. 1997 Feb;60(2):296-304.
2
Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis.通过单倍型分析优化3号染色体上的原发性开角型青光眼GLC1C区域
Clin Genet. 2004 Jan;65(1):40-4. doi: 10.1111/j..2004.00182.x.
3
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.希腊家系中常染色体显性原发性开角型青光眼与3号染色体长臂的基因连锁关系。
Eur J Hum Genet. 2001 Jun;9(6):452-7. doi: 10.1038/sj.ejhg.5200645.
4
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.排除一个受成人型原发性开角型青光眼影响的家系与1号染色体1q21 - q31上青少年青光眼基因座的连锁关系。
J Med Genet. 1996 Dec;33(12):1043-4. doi: 10.1136/jmg.33.12.1043.
5
Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma.在一个患有中年发病原发性开角型青光眼的家族中，GLC1A作为候选青光眼基因的可能性被排除。
Ophthalmology. 1996 Jul;103(7):1035-40. doi: 10.1016/s0161-6420(96)30570-8.
6
Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia.撒丁岛常染色体显性原发性开角型青光眼（POAG）的基因定位
Int Ophthalmol. 1996;20(1-3):1-5. doi: 10.1007/BF00212936.
7
A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region.成人原发性开角型青光眼的第三个基因座（GLC1D）定位于8q23区域。
Am J Ophthalmol. 1998 Jul;126(1):17-28. doi: 10.1016/s0002-9394(98)00073-7.
8
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.常染色体显性青少年型开角型青光眼基因定位于1号染色体长臂。
Am J Hum Genet. 1994 Jan;54(1):62-70.
9
10
Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma.对一个有青少年型原发性开角型青光眼患者的印度家庭进行的基因分析。
Ophthalmic Genet. 2004 Mar;25(1):11-23. doi: 10.1076/opge.25.1.11.28995.
引用本文的文献
1
Mendelian Randomization and Transcriptome-Wide Association Analysis Identified Genes That Were Pleiotropically Associated with Intraocular Pressure.孟德尔随机化和转录组全基因组关联分析鉴定了与眼内压呈多效性关联的基因。
Genes (Basel). 2023 Apr 30;14(5):1027. doi: 10.3390/genes14051027.
2
Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.外显子组测序鉴定原发性先天性和青少年型青光眼中的脯氨酰-赖氨酸 2-氧戊二酸 5-双加氧酶 2 突变。
Indian J Ophthalmol. 2021 Oct;69(10):2710-2716. doi: 10.4103/ijo.IJO_1750_21.
3
Normal and glaucomatous outflow regulation.正常和青光眼性房水流出调节。
Prog Retin Eye Res. 2021 May;82:100897. doi: 10.1016/j.preteyeres.2020.100897. Epub 2020 Aug 11.
4
Analysis of interleukin-20 receptor complexes in trabecular meshwork cells and effects of cytokine signaling in anterior segment perfusion culture.小梁网细胞中白细胞介素-20受体复合物的分析及前房灌注培养中细胞因子信号传导的作用
Mol Vis. 2019 Apr 27;25:266-282. eCollection 2019.
5
Major review: Molecular genetics of primary open-angle glaucoma.重大综述：原发性开角型青光眼的分子遗传学
Exp Eye Res. 2017 Jul;160:62-84. doi: 10.1016/j.exer.2017.05.002. Epub 2017 May 10.
6
Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine.类固醇诱导性眼压升高/青光眼：聚焦药物基因组学及其对精准医学的影响
Prog Retin Eye Res. 2017 Jan;56:58-83. doi: 10.1016/j.preteyeres.2016.09.003. Epub 2016 Sep 22.
7
The Role of the IL-20 Subfamily in Glaucoma.白细胞介素-20亚家族在青光眼中的作用。
Mediators Inflamm. 2016;2016:4083735. doi: 10.1155/2016/4083735. Epub 2016 Jan 20.
8
Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.基因丰富的大片段缺失在来自印度和高加索的 POAG 患者中更为常见。
Invest Ophthalmol Vis Sci. 2014 Apr 24;55(5):3258-64. doi: 10.1167/iovs.14-14339.
9
Family-based analysis identified CD2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population.基于家系的分析确定CD2是中国汉族人群原发性开角型青光眼的一个易感基因。
J Cell Mol Med. 2014 Apr;18(4):600-9. doi: 10.1111/jcmm.12201. Epub 2014 Mar 6.
10
Interleukin-20 receptor expression in the trabecular meshwork and its implication in glaucoma.小梁网中白细胞介素-20 受体的表达及其在青光眼中的意义。
J Ocul Pharmacol Ther. 2014 Mar-Apr;30(2-3):267-76. doi: 10.1089/jop.2013.0187. Epub 2014 Jan 23.
本文引用的文献
1
The value of heredity in the detection and study of glaucoma.
Am J Ophthalmol. 1955 Nov;40(5 Part 1):681-5. doi: 10.1016/0002-9394(55)91495-1.
2
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region.成人型原发性开角型青光眼一个基因座（GLC1B）定位于2cen-q13区域。
Genomics. 1996 Aug 15;36(1):142-50. doi: 10.1006/geno.1996.0434.
3
Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.与1号染色体相关的青少年型原发性开角型青光眼的临床表型
Ophthalmology. 1996 May;103(5):808-14. doi: 10.1016/s0161-6420(96)30611-8.
4
A comprehensive genetic map of the human genome based on 5,264 microsatellites.基于5264个微卫星构建的人类基因组综合遗传图谱。
Nature. 1996 Mar 14;380(6570):152-4. doi: 10.1038/380152a0.
5
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps.一组用于生成高质量、高分辨率全人类基因组连锁图谱的三核苷酸和四核苷酸重复标记。
Hum Mol Genet. 1995 Oct;4(10):1837-44. doi: 10.1093/hmg/4.10.1837.
6
Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers.
Hum Mol Genet. 1995 Oct;4(10):1829-36. doi: 10.1093/hmg/4.10.1829.
7
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.家族性开角型青光眼与1号染色体1q21-q31区域的遗传连锁。
Nat Genet. 1993 May;4(1):47-50. doi: 10.1038/ng0593-47.
8
Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures.在对多态性二核苷酸重复序列进行分型时出现的阴影带：一些原因及解决方法。
Biotechniques. 1993 Aug;15(2):280-4.
9
Faster sequential genetic linkage computations.更快的顺序遗传连锁计算。
Am J Hum Genet. 1993 Jul;53(1):252-63.
10
Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey.原发性开角型青光眼的家族史与风险。巴尔的摩眼疾调查。
Arch Ophthalmol. 1994 Jan;112(1):69-73. doi: 10.1001/archopht.1994.01090130079022.
Zotero 插件