Rusbridge Clare, Knowler Penny, Rouleau Guy A, Minassian Berge A, Rothuizen Jan
Stone Lion Veterinary Centre, 41 High Street, Wimbledon, SW19 5AU United Kingdom.
J Hered. 2005;96(7):745-9. doi: 10.1093/jhered/esi074. Epub 2005 Jun 15.
Inherited diseases commonly emerge within pedigree dog populations, often due to use of repeatedly bred carrier sire(s) within a small gene pool. Accurate family records are usually available making linkage analysis possible. However, there are many factors that are intrinsically difficult about collecting DNA and collating pedigree information from a large canine population. The keys to a successful DNA collection program include (1) the need to establish and maintain support from the pedigree breed clubs and pet owners; (2) committed individual(s) who can devote the considerable amount of time and energy to coordinating sample collection and communicating with breeders and clubs; and (3) providing means by which genotypic and phenotypic information can be easily collected and stored. In this article we described the clinical characteristics of inherited occipital hypoplasia/syringomyelia (Chiari type I malformation) in the cavalier King Charles spaniel and our experiences in establishing a pedigree and DNA database to study the disease.
遗传性疾病在纯种犬群体中普遍出现，通常是由于在小基因库中使用反复繁殖的携带致病基因的种公犬所致。通常可以获得准确的家族记录，从而使连锁分析成为可能。然而，从大量犬类群体中收集DNA和整理系谱信息存在许多内在困难。成功的DNA收集计划的关键包括：（1）需要建立并维持来自系谱繁育俱乐部和宠物主人的支持；（2）有能够投入大量时间和精力来协调样本收集以及与繁育者和俱乐部沟通的专人；（3）提供能够轻松收集和存储基因型和表型信息的方法。在本文中，我们描述了查理士王小猎犬遗传性枕骨发育不全/脊髓空洞症（Chiari I型畸形）的临床特征，以及我们在建立系谱和DNA数据库以研究该疾病方面的经验。
