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原发性痛风的遗传学研究。对两个痛风家族个体中尿酸结合α1-α2球蛋白血浆水平的调查。

Genetic studies in primary gout. Investigations on the plasma levels of the urate-binding alpha 1-alpha 2-globulin in individuals from two gouty kindreds.

作者信息

Alvsaker J O

出版信息

J Clin Invest. 1968 Jun;47(6):1254-61. doi: 10.1172/JCI105817.

Abstract

The plasma levels of the urate-binding alpha(1)-alpha(2)-globulin, as determined by its urate-binding capacity, have been recorded in 19 individuals from two gouty kindreds. A significantly reduced binding capacity, accounting for 13-30% of the mean value obtained in healthy, unrelated control subjects, was found in all cases of gout and in the single case of essential hyperuricemia included in the present study. In addition, six apparently healthy members of one of these kindreds also exhibited this characteristic. The distribution of the characteristic in three subsequent generations from this kindred further supported the hypothesis that the reduced binding capacity was inherited as an autosomal trait for which affected subjects were heterozygous. Based on the present observation, the mechanisms of inheritance in primary gout are discussed with special emphasis on the possible cooperation of genetic and environmental factors.

摘要

通过尿酸结合能力测定了来自两个痛风家族的19名个体的尿酸结合α(1)-α(2)球蛋白的血浆水平。在本研究纳入的所有痛风病例和原发性高尿酸血症的单一病例中,均发现结合能力显著降低,占健康非亲属对照受试者平均值的13%至30%。此外,其中一个家族的六名表面健康的成员也表现出这一特征。该家族三代人的这一特征分布进一步支持了以下假说:结合能力降低作为常染色体性状遗传,受影响的个体为杂合子。基于目前的观察结果,讨论了原发性痛风的遗传机制,特别强调了遗传因素与环境因素可能的协同作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4130/297281/6e74b4ba05b7/jcinvest00241-0047-a.jpg

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