先天性扁平角膜的遗传学
The genetics of cornea plana congenita.
作者信息
Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A
机构信息
Department of Medical Genetics, University of Helsinki, Finland.
出版信息
J Med Genet. 1996 Feb;33(2):116-9. doi: 10.1136/jmg.33.2.116.
Cornea plana congenita is believed to occur in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis. In this study we compared these traits clinically and genetically. Using the horizontal corneal refraction value in diopters (D) as a parameter, a control population (n = 473) had a mean value of 43 center dot 4 (SD 1 center dot 5 D) for men and 43 center dot 7 (SD 1 center dot 6 D) for women, whereas in 51 subjects affected with CNA2 the mean value was 29 center dot 9 (SD 5 center dot 2 D) and in five subjects affected with CNA1 the mean value was 37 center dot 8 (SD 1 center dot 6 D). By linkage analysis in two CNA1 families the CNA2 locus could be conclusively excluded. These data suggest that at least two forms of hereditary cornea plana exist which are both clinically and genetically distinct.
先天性扁平角膜被认为以轻度常染色体显性（CNA1）和更严重的常染色体隐性（CNA2）形式出现。我们最近通过连锁分析将CNA2基因座定位到12号染色体上的一个区域。在本研究中，我们对这些性状进行了临床和遗传学比较。以屈光度（D）表示的角膜水平屈光值作为参数，一个对照人群（n = 473）中男性的平均值为43.4（标准差1.5 D），女性为43.7（标准差1.6 D），而在51名患有CNA2的受试者中平均值为29.9（标准差5.2 D），在5名患有CNA1的受试者中平均值为37.8（标准差1.6 D）。通过对两个CNA1家族的连锁分析，可以明确排除CNA2基因座。这些数据表明，至少存在两种临床和遗传上都不同的遗传性扁平角膜形式。
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