Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany.
J Hered. 2010 Sep-Oct;101(5):633-8. doi: 10.1093/jhered/esq040. Epub 2010 Apr 26.
Primary cataracts (CAT) are characterized as any form of opacities of the eye lenses and are not accompanied by other diseases. CAT may impair vision depending on their size, location, and their state of progression. In order to investigate the cause of congenital or juvenile CAT in inbred Angolan lions kept in German zoos, we analyzed the genomic sequences of 4 crystalline genes CRYAA, CRYAB, CRYBB2, and CRYBB1. In addition, 10 CAT candidate genes (GJA3, LIM2, CRYGA, CRYGB, CRYGC, CRYGD CRYGS, BFSP2, CRYBA4, and CRYBB1) were analyzed using adjacent microsatellites. We identified 10 single nucleotide polymorphisms in the Angolan lion crystalline genes and 9 segregating microsatellites. Nonparametric and parametric linkage analyses did not reveal any linkage between one of the analyzed markers and CAT. So, we concluded that these genes can be excluded as causative for the familial primary cataract phenotype in these Angolan lions.
原发性白内障(CAT)的特征为任何形式的晶状体混浊,且不伴有其他疾病。CAT 可能会影响视力,具体取决于其大小、位置和进展状态。为了研究德国动物园圈养的近交安哥拉狮先天性或少年性 CAT 的病因,我们分析了 4 个晶状体基因 CRYAA、CRYAB、CRYBB2 和 CRYBB1 的基因组序列。此外,还使用相邻微卫星分析了 10 个 CAT 候选基因(GJA3、LIM2、CRYGA、CRYGB、CRYGC、CRYGD、CRYGS、BFSP2、CRYBA4 和 CRYBB1)。我们在安哥拉狮的晶状体基因中发现了 10 个单核苷酸多态性和 9 个分离的微卫星。非参数和参数连锁分析均未显示分析标记物之一与 CAT 之间存在连锁。因此,我们得出结论,这些基因可以排除为这些安哥拉狮家族性原发性白内障表型的致病基因。