圆锥角膜的遗传学
The genetics of keratoconus.
作者信息
Nowak Dorota M, Gajecka Marzena
机构信息
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland, Strzeszynska 32, 60-479 Poznan.
出版信息
Middle East Afr J Ophthalmol. 2011 Jan;18(1):2-6. doi: 10.4103/0974-9233.75876.
Abstract
Keratoconus (KTCN) is non-inflammatory thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive error, and decreased vision. Keratoconus is a complex condition of multifactorial etiology. Both genetic and environmental factors are associated with KTCN. Evidence of genetic etiology includes familial inheritance, discordance between dizygotic twins, and association with other known genetic disorders. Several loci responsible for a familial form of KTCN have been mapped; however, no mutations in any genes have been identified for any of these loci. This article focuses on the genetic aspects. In addition, bioinformatics methods applied in KTCN gene identification process are discussed.
摘要
圆锥角膜是一种非炎症性的角膜变薄和前突，可导致角膜变陡和变形、屈光不正改变以及视力下降。圆锥角膜是一种病因复杂的多因素疾病。遗传和环境因素均与圆锥角膜有关。遗传病因的证据包括家族遗传、双卵双胞胎之间的不一致性以及与其他已知遗传疾病的关联。几个导致家族性圆锥角膜的基因座已被定位；然而，尚未在这些基因座中的任何一个中鉴定出任何基因突变。本文重点关注遗传方面。此外，还讨论了在圆锥角膜基因鉴定过程中应用的生物信息学方法。
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本文引用的文献
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Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers.14号染色体上圆锥角膜易感性位点的证据：一项使用单核苷酸多态性标记的全基因组连锁筛查。
Arch Ophthalmol. 2010 Sep;128(9):1191-5. doi: 10.1001/archophthalmol.2010.200.
2
Mutational screening of VSX1 in keratoconus patients from the European population.对欧洲人群圆锥角膜患者的 VSX1 基因突变筛查。
Eye (Lond). 2010 Jun;24(6):1085-92. doi: 10.1038/eye.2009.217. Epub 2009 Sep 18.
3
CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.CRB1基因突变与莱伯先天性黑矇患者的圆锥角膜有关。
Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3185-7. doi: 10.1167/iovs.08-2886. Epub 2009 Apr 30.
4
Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients.韩国圆锥角膜患者白细胞介素1β（IL1B）启动子中-31T>C和-511 C>T多态性的关联
Mol Vis. 2008;14:2109-16. Epub 2008 Nov 21.
5
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6
Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.圆锥角膜的连锁分析：5q21.2位点的复制及其他潜在位点的鉴定
Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1081-6. doi: 10.1167/iovs.08-2382. Epub 2008 Oct 31.
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Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.澳大利亚一个大家族中表现为常染色体显性遗传的圆锥角膜，由两个新基因座的双基因遗传所致。
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8
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Cornea. 2008 Sep;27(8):874-8. doi: 10.1097/ICO.0b013e31816f5edc.
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10
Sizing up human height variation.审视人类身高差异。
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