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布列塔尼猎犬遗传性补体第三成分缺乏症的基因分析。

Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs.

作者信息

Johnson J P, McLean R H, Cork L C, Winkelstein J A

出版信息

Am J Med Genet. 1986 Nov;25(3):557-62. doi: 10.1002/ajmg.1320250319.

Abstract

Genetically determined C3 deficiency in Brittany spaniel dogs shares a number of biochemical and clinical characteristics with the human disorder. In humans, the gene for C3 deficiency is a null gene that is allelic to the structural gene for C3 and is not linked to the major histocompatibility locus. The current study used allotype analysis of canine C3 in order to demonstrate that the gene for C3 deficiency in these dogs is also a null gene allelic to the structural gene for C3. In addition, preliminary pedigree analysis suggests that the gene for canine C3 deficiency is apparently not closely linked to the major histocompatibility complex of the dog. Thus, it appears that C3 deficiency in Brittany spaniel dogs not only shares biochemical and clinical features with C3 deficiency in humans, but also shares some genetic characteristics with the human disorder.

摘要

布列塔尼猎犬中由基因决定的C3缺乏症与人类疾病具有许多生化和临床特征。在人类中,C3缺乏症的基因是一个无效基因,它与C3的结构基因等位,且不与主要组织相容性位点连锁。当前研究通过对犬类C3进行同种异型分析,以证明这些犬类中C3缺乏症的基因也是与C3结构基因等位的无效基因。此外,初步的系谱分析表明,犬类C3缺乏症的基因显然与犬的主要组织相容性复合体没有紧密连锁。因此,布列塔尼猎犬的C3缺乏症似乎不仅与人类的C3缺乏症具有生化和临床特征,还与人类疾病具有一些遗传特征。

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