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类粘蛋白系统:另外17种类粘蛋白变体及新命名法提案

Orosomucoid system: 17 additional orosomucoid variants and proposal for a new nomenclature.

作者信息

Yuasa I, Weidinger S, Umetsu K, Suenaga K, Ishimoto G, Eap B C, Duche J C, Baumann P

机构信息

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

出版信息

Vox Sang. 1993;64(1):47-55. doi: 10.1111/j.1423-0410.1993.tb02514.x.

Abstract

There are two forms of orosomucoid (ORM) in the sera of most individuals. They are encoded by two separate but closely linked loci, ORM1 and ORM2. A number of variants have been identified in various populations. Duplication and nonexpression are also observed in some populations. Thus, the ORM system is very complicated and its nomenclature is very confusing. In order to propose a new nomenclature, ORM variants detected by several laboratories have been compared and characterized by isoelectric focusing (IEF) followed by immunoprinting. A total of 57 different alleles including 17 new ones were identified. The 27 alleles were assigned to the ORM1 locus, and the others to the ORM2 locus. The designations ORMF1, ORM1F2, ORM1S and ORM2M were adopted for the four common alleles instead of ORM11, ORM13, ORM12 and ORM21 (ORM2A), respectively. The variants were designated alpha numerically according to their relative mobilities after IEF in a pH gradient of 4.5-5.4 with Triton X-100 and glycerol. For the duplicated genes a prefix is added to a combined name of two alleles, e.g. ORM1dB9S. Silent alleles were named ORM1Q0 and ORM2Q0 conventionally. In addition, the effects of diseases to ORM band patterns after IEF are also discussed.

摘要

大多数人的血清中存在两种形式的血清类黏蛋白(ORM)。它们由两个独立但紧密连锁的基因座ORM1和ORM2编码。在不同人群中已鉴定出许多变体。在一些人群中还观察到基因重复和不表达的情况。因此,ORM系统非常复杂,其命名也非常混乱。为了提出一种新的命名法,几个实验室检测到的ORM变体通过等电聚焦(IEF)随后免疫印迹进行了比较和表征。总共鉴定出57个不同的等位基因,包括17个新的等位基因。27个等位基因被分配到ORM1基因座,其他的被分配到ORM2基因座。四个常见等位基因分别采用ORMF1、ORM1F2、ORM1S和ORM2M的命名,而不是分别采用ORM11、ORM13、ORM12和ORM21(ORM2A)。这些变体根据它们在含有Triton X-100和甘油的4.5 - 5.4 pH梯度的IEF后的相对迁移率按字母数字顺序命名为α。对于重复基因,在两个等位基因的组合名称前添加一个前缀,例如ORM1dB9S。沉默等位基因通常命名为ORM1Q0和ORM2Q0。此外,还讨论了疾病对IEF后ORM条带模式的影响。

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