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先天性关节挛缩症:萨福克谱系羔羊的一种遗传性肢体畸形。

Congenital arthrogryposis: an inherited limb deformity in pedigree Suffolk lambs.

作者信息

Doherty M L, Kelley E P, Healy A M, Callanan J J, Crosby T F, Skelly C, Boland M P

机构信息

Faculty of Veterinary Medicine, University College Dublin, Ireland.

出版信息

Vet Rec. 2000 Jun 24;146(26):748-53. doi: 10.1136/vr.146.26.748.

Abstract

Thirty of 52 pedigree Suffolk lambs (58 per cent) were born with arthrogryposis characterised by bilateral flexion rigidity of the metacarpophalangeal and carpal joints. The recent introduction of a breeding ram was identified as the only significant risk factor in the flock, and embryo transfer was used to test the hypothesis that the arthrogryposis was an inherited disorder associated with the introduction of this ram. Two adult ewes that had previously produced lambs with arthrogryposis by the ram and four of its affected daughters were available as donors, and 20 crossbred ewes were used as recipients. Ten Suffolk-crossed ewes that had no known familial relationship with the ram were also mated by the ram as controls and they produced 10 normal lambs. Following embryo transfer, 19 lambs were born, of which seven were stillborn; arthrogryposis was evident in 10 of the 12 live lambs. Analysis of the data suggested that in the population under study, arthrogryposis was inherited as an autosomal recessive condition.

摘要

52只谱系萨福克羔羊中有30只(58%)出生时患有关节弯曲症,其特征为掌指关节和腕关节双侧屈曲僵硬。最近引入的一只种公羊被确定为该羊群中唯一的重要风险因素,胚胎移植被用于检验关节弯曲症是一种与引入这只公羊相关的遗传性疾病这一假设。两只曾被这只公羊配种产出患有关节弯曲症羔羊的成年母羊及其四只患病后代母羊作为供体,20只杂交母羊作为受体。另外10只与这只公羊无已知亲缘关系的萨福克杂交母羊也与这只公羊交配作为对照,它们产出了10只正常羔羊。胚胎移植后,共出生19只羔羊,其中7只为死产;12只存活羔羊中有10只患有关节弯曲症。数据分析表明,在所研究的群体中,关节弯曲症是以常染色体隐性疾病的方式遗传的。

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