Szpak Y, Vieville J C, Tabary T, Naud M C, Chopin M, Edelson C, Cohen J H, Dausset J, de Kozak Y, Pla M
Mouse Immunogenetics, Institut National de la Santé et de la Recherche Médicale, Unité 462, Institute of Hematology, Saint-Louis Hospital, 1 Avenue Claude Vellefaux, 75475 Paris Cedex 10, France.
Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2572-6. doi: 10.1073/pnas.051595998. Epub 2001 Feb 13.
Humans who have inherited the class I major histocompatibility allele HLA-A29 have a markedly increased relative risk of developing the eye disease termed birdshot chorioretinopathy. This disease affecting adults is characterized by symmetrically scattered, small, cream-colored spots in the fundus associated with retinal vasculopathy and inflammatory signs causing damage to the ocular structures, leading regularly to visual loss. To investigate the role of HLA-A29 in this disease, we introduced the HLA-A29 gene into mice. Aging HLA-A29 transgenic mice spontaneously developed retinopathy, showing a striking resemblance to the HLA-A29-associated chorioretinopathy. These results strongly suggest that HLA-A29 is involved in the pathogenesis of this disease. Elucidation of the role of HLA-A29 should be assisted by this transgenic model.
继承了I类主要组织相容性等位基因HLA - A29的人类患有一种名为鸟枪弹样脉络膜视网膜病变的眼部疾病的相对风险显著增加。这种影响成年人的疾病的特征是眼底有对称分布的、散在的、小的、奶油色斑点，伴有视网膜血管病变和炎症迹象，会对眼部结构造成损害，经常导致视力丧失。为了研究HLA - A29在这种疾病中的作用，我们将HLA - A29基因导入小鼠体内。衰老的HLA - A29转基因小鼠自发地发展出视网膜病变，与HLA - A29相关的脉络膜视网膜病变极为相似。这些结果强烈表明HLA - A29参与了这种疾病的发病机制。这个转基因模型应该有助于阐明HLA - A29的作用。
