Cargill E J, Famula T R, Strain G M, Murphy K E
Department of Pathobiology and Program in Genetics, College of Veterinary Medicine, Texas A&M University, College Station, Texas 77843-4467, USA.
Genetics. 2004 Mar;166(3):1385-93. doi: 10.1534/genetics.166.3.1385.
Hereditary loss of hearing affects many breeds of the domestic dog, but the Dalmatian has the highest prevalence. Approximately 30% are affected in the United States (U.S.) population. It is widely accepted that a relationship exists between deafness and pigmentation in the dog and also in other animals. While the Dalmatian exemplifies this relationship, the genetic origin and mode of inheritance of deafness in this breed are unknown. The goals of this study were to: (1) estimate the heritability of deafness in an extended kindred of U.S. Dalmatians and (2) determine, through complex segregation analysis, whether there is a major segregating locus that has a large effect on the expression of deafness. A kindred of 266 Dalmatians was assembled, of which 199 had been diagnosed using the brainstem auditory evoked response to determine auditory status. Of these, 74.4% (N = 148) had normal hearing, 18.1% (N = 36) were unilaterally deaf, and 7.5% (N = 15) were bilaterally deaf. A heritability of 0.73 was estimated considering deafness a dichotomous trait and 0.75 considering it as a trichotomous trait. Although deafness in the Dalmatian is clearly heritable, the evidence for the presence of a single major gene affecting the disorder is not persuasive.
遗传性听力丧失影响许多家养犬种,但大麦町犬的患病率最高。在美国的犬类群体中,约30%受到影响。人们普遍认为,犬类以及其他动物的耳聋与色素沉着之间存在关联。虽然大麦町犬体现了这种关系,但该品种耳聋的遗传起源和遗传模式尚不清楚。本研究的目的是:(1)估计美国大麦町犬一个扩展家系中耳聋的遗传力;(2)通过复杂分离分析,确定是否存在一个对耳聋表达有重大影响的主要分离基因座。收集了一个包含266只大麦町犬的家系,其中199只通过脑干听觉诱发电位诊断来确定听觉状态。其中,74.4%(N = 148)听力正常,18.1%(N = 36)单侧耳聋,7.5%(N = 15)双侧耳聋。将耳聋视为二分性状时,估计遗传力为0.73;视为三分性状时,遗传力为0.75。虽然大麦町犬的耳聋显然具有遗传性,但存在一个影响该疾病的单一主要基因的证据并不具有说服力。