Pfeiffer I, Brenig B
Institute of Veterinary Medicine, University of Göttingen, Göttingen, Germany.
J Anim Breed Genet. 2005 Apr;122(2):140-2. doi: 10.1111/j.1439-0388.2005.00500.x.
Canine leucocyte adhesion deficiency (CLAD) is an autosomal recessive hereditary disease occurring among Irish red setters. The genetic defect causative for this disorder was recently identified as a missense mutation in the ITGB2 gene. Irish red setters with one copy of the mutant gene appear normal, while dogs with two copies of the mutant gene manifest the disease. The present report describes the analysis of the single nucleotide polymorphism in 289 Irish red setters by DNA sequencing. The frequency of CLAD carriers in Germany is 11%.
犬白细胞黏附缺陷症(CLAD)是一种发生在爱尔兰雪达犬中的常染色体隐性遗传病。最近已确定导致这种疾病的基因缺陷是ITGB2基因中的一个错义突变。携带一份突变基因的爱尔兰雪达犬看起来正常,而携带两份突变基因的犬则会表现出该疾病。本报告描述了通过DNA测序对289只爱尔兰雪达犬的单核苷酸多态性进行的分析。德国CLAD携带者的频率为11%。