Suppr超能文献

马复发性气道阻塞的混合遗传

Mixed inheritance of equine recurrent airway obstruction.

作者信息

Gerber V, Baleri D, Klukowska-Rötzler J, Swinburne J E, Dolf G

机构信息

Equine Clinic, Department of Veterinary Clinical Studies, Vetsuisse-Faculty, University of Berne, Switzerland.

出版信息

J Vet Intern Med. 2009 May-Jun;23(3):626-30. doi: 10.1111/j.1939-1676.2009.0292.x.

Abstract

BACKGROUND

Mode of inheritance of equine recurrent airway obstruction (RAO) is unknown.

HYPOTHESIS

Major genes are responsible for RAO.

ANIMALS

Direct offspring of 2 RAO-affected Warmblood stallions (n = 197; n = 163) and a representative sample of Swiss Warmbloods (n = 401).

METHODS

One environmental and 4 genetic models (general, mixed inheritance, major gene, and polygene) were tested for Horse Owner Assessed Respiratory Signs Index (1-4, unaffected to severely affected) by segregation analyses of the 2 half-sib sire families, both combined and separately, using prevalences estimated in a representative sample.

RESULTS

In all data sets the mixed inheritance model was most likely to explain the pattern of inheritance. In all 3 datasets the mixed inheritance model did not differ significantly from the general model (P= .62, P= 1.00, and P= .27) but was always better than the major gene model (P < .01) and the polygene model (P < .01). The frequency of the deleterious allele differed considerably between the 2 sire families (P= .23 and P= .06). In both sire families the displacement was large (t= 17.52 and t= 12.24) and the heritability extremely large (h(2)= 1).

CONCLUSIONS AND CLINICAL RELEVANCE

Segregation analyses clearly reveal the presence of a major gene playing a role in RAO. In 1 family, the mode of inheritance was autosomal dominant, whereas in the other family it was autosomal recessive. Although the expression of RAO is influenced by exposure to hay, these findings suggest a strong, complex genetic background for RAO.

摘要

背景

马复发性气道阻塞(RAO)的遗传模式尚不清楚。

假设

主要基因与RAO有关。

动物

2匹受RAO影响的温血种公马的直系后代(n = 197;n = 163)以及瑞士温血马的代表性样本(n = 401)。

方法

通过对2个半同胞父系家族进行分离分析,对环境模型和4种遗传模型(一般模型、混合遗传模型、主要基因模型和多基因模型)进行测试,以评估马主评估的呼吸体征指数(1 - 4级,从未受影响到严重受影响),将两个家族合并及单独分析,使用在代表性样本中估计的患病率。

结果

在所有数据集中,混合遗传模型最有可能解释遗传模式。在所有3个数据集中,混合遗传模型与一般模型无显著差异(P = 0.62、P = 1.00和P = 0.27),但始终优于主要基因模型(P < 0.01)和多基因模型(P < 0.01)。两个父系家族中有害等位基因的频率差异很大(P = 0.23和P = 0.06)。在两个父系家族中,位移都很大(t = 17.52和t = 12.24),遗传力极大(h(2)= 1)。

结论及临床意义

分离分析清楚地揭示了一个主要基因在RAO中发挥作用。在一个家族中,遗传模式为常染色体显性遗传,而在另一个家族中为常染色体隐性遗传。尽管RAO的表达受干草接触的影响,但这些发现表明RAO具有强大而复杂的遗传背景。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验