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通过等电聚焦进行血清类黏蛋白(ORM)分型:存在额外重复的ORM1基因座单倍型以及两个ORM基因座紧密连锁的证据。

Orosomucoid (ORM) typing by isoelectric focusing: evidence for an additional duplicated ORM1 locus haplotype and close linkage of two ORM loci.

作者信息

Yuasa I, Umetsu K, Suenaga K

机构信息

Department of Legal Medicine, Tottori University School of Medicine, Yonago, Japan.

出版信息

Am J Hum Genet. 1988 Aug;43(2):165-9.

Abstract

Human serum orosomucoid (ORM) exhibits a high variability. Several alleles including a duplicated ORM1 gene (ORM12.1) have been identified at two functional ORM loci, ORM1 and ORM2. In this study a modified isoelectric focusing, in which glycerin was omitted from gels, was used to differentiate a new variant ORM1 5 from ORM2 3. The ORM1 5 band was always observed together with the ORM1 2 band. The simultaneous expression could be explained in terms of an additional duplicated ORM1 locus haplotype, ORM15.2, whose average frequency was .016 in two Japanese populations. The ORM26 found at a polymorphic frequency (.023) was demonstrated to be in association with ORM12, indicating the close proximity between ORM1 and ORM2 loci.

摘要

人血清类粘蛋白(ORM)表现出高度变异性。在两个功能性ORM位点ORM1和ORM2上已鉴定出多个等位基因,包括一个重复的ORM1基因(ORM12.1)。在本研究中,使用了一种改良的等电聚焦方法,即从凝胶中省略甘油,以区分新变体ORM1 5和ORM2 3。ORM1 5条带总是与ORM1 2条带一起出现。这种同时表达可以用一个额外的重复ORM1位点单倍型ORM15.2来解释,其在两个日本人群中的平均频率为0.016。以多态频率(0.023)发现的ORM26被证明与ORM12相关,表明ORM1和ORM2位点之间距离很近。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e532/1715351/cb32103dc02f/ajhg00118-0056-a.jpg

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