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人血浆α1B-糖蛋白的遗传多态性:通过免疫印迹法或二维电泳简单方法进行表型分析。

Genetic polymorphism of human plasma alpha 1B-glycoprotein: phenotyping by immunoblotting or by a simple method of 2-D electrophoresis.

作者信息

Gahne B, Juneja R K, Stratil A

出版信息

Hum Genet. 1987 Jun;76(2):111-5. doi: 10.1007/BF00284904.

Abstract

Genetic polymorphism of human plasma (serum) alpha 1B-glycoprotein (alpha 1B) was observed using one-dimensional horizontal polyacrylamide gel electrophoresis (PAGE) pH 9.0 of plasma samples followed by Western blotting with specific antiserum to alpha 1B. A simple method of two-dimensional agarose gel electrophoresis (pH 5.4)-horizontal PAGE (pH 9.0) of plasma samples, followed by general protein staining, was reported as an alternative method for alpha 1B typing. The three different phenotypes of alpha 1B observed (designated 1-1, 1-2, and 2-2) were apparently identical to those reported by Altland et al. (1983), who used double one-dimensional electrophoresis. Family data supported the hypothesis that the three alpha 1B phenotypes are determined by two codominant alleles at an autosomal locus, designated A1B. Allele frequencies in a Swedish population were: A1B1, 0.937; A1B2, 0.063; PIC, 0.111. For clues on linkage relationships of human A1B, the previously known linkages of A1B in pigs and horses, including the one between A1B and the gene that determines susceptibility to malignant hyperthermia in pigs were discussed.

摘要

采用一维水平聚丙烯酰胺凝胶电泳(PAGE)(pH 9.0)对血浆样本进行分析,随后用针对α1B的特异性抗血清进行蛋白质印迹法,观察人血浆(血清)α1B - 糖蛋白(α1B)的遗传多态性。报道了一种简单的方法,即对血浆样本进行二维琼脂糖凝胶电泳(pH 5.4)-水平PAGE(pH 9.0),随后进行常规蛋白质染色,作为α1B分型的替代方法。观察到的α1B的三种不同表型(分别命名为1 - 1、1 - 2和2 - 2)显然与Altland等人(1983年)报道的表型相同,他们使用的是双一维电泳法。家系数据支持这样的假设,即这三种α1B表型由常染色体位点上的两个共显性等位基因决定,该位点命名为A1B。瑞典人群中的等位基因频率为:A1B1,0.937;A1B2,0.063;PIC,0.111。为了寻找人类A1B连锁关系的线索,讨论了猪和马中A1B先前已知的连锁关系,包括猪中A1B与决定恶性高热易感性的基因之间的连锁关系。

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