Martínez S, Valdés J, Alonso R A
Laboratorio de Genética Molecular, Facultad de Medicina Veterinaria y Zootecnia, Universidad Nacional Autónoma de México.
Can J Vet Res. 2000 Oct;64(4):243-5.
One of the most common skeletal affections in humans is achondroplasia, a short-limbed dwarfism that is, in most cases, caused by mutations in the transmembrane domain of the fibroblast growth factor receptor-3 (FGFR-3) gene. Due to the lack of sufficient radiological, genetic, and molecular studies, most types of skeletal anomalies in dogs are classified as achondroplasia. To initiate the molecular characterization of some osteochondrodysplastic dog breeds, we obtained the DNA sequence of the transmembrane domain of the FGFR-3 gene from the dachshund, basset hound, bulldog, and German shepherd dogs. All 4 breeds showed no mutation in the evaluated region. This indicates that the mutation responsible for the osteochondrodysplastic phenotype in the tested dog breeds lies either elsewhere in the FGFR-3 gene or in other ones involved in the formation and development of endochondral bone.
人类最常见的骨骼疾病之一是软骨发育不全，这是一种短肢侏儒症，在大多数情况下，是由成纤维细胞生长因子受体-3（FGFR-3）基因跨膜结构域的突变引起的。由于缺乏足够的放射学、遗传学和分子研究，犬类的大多数骨骼异常类型都被归类为软骨发育不全。为了启动对一些骨软骨发育不良犬种的分子特征研究，我们从腊肠犬、巴吉度猎犬、斗牛犬和德国牧羊犬中获得了FGFR-3基因跨膜结构域的DNA序列。所有4个品种在评估区域均未显示突变。这表明，在所测试的犬种中，导致骨软骨发育不良表型的突变要么位于FGFR-3基因的其他位置，要么位于参与软骨内骨形成和发育的其他基因中。
