Orosomucoid System: 17 Additional Orosomucoid Variants and Proposal for a New Nomenclature
Orosomucoid System: 17 Additional Orosomucoid Variants and Proposal for a New Nomenclature
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Orosumucoid 系统：17 种额外的 Orosumucoid 变体和新命名法的提案
作者：
I. Yuasa;S. Weidinger;K. Umetsu;K. Suenaga;G. Ishimoto;B.C. Eap;J. Duché;P. Baumann
在大多数人的血清中有两种形式的类粘蛋白(ORM)。它们由两个独立但紧密相连的基因座ORM1和ORM2编码。在不同的人群中已经发现了许多变异。在一些群体中也观察到复制和不表达。因此，ORM系统非常复杂，其命名非常混乱。为了提出一种新的命名方法，对几个实验室检测到的ORM变体进行了等电聚焦(IEF)和免疫印迹鉴定。共鉴定出57个不同的等位基因，其中17个为新等位基因。27个等位基因被分配到ORM1基因座，其余等位基因被分配到ORM2基因座。4个常见等位基因被命名为ORM*F1、ORMI*F2、ORMI*S和ORM2*M，而不是ORM1*1、ORM1*3、ORM1*2和ORM2*1(ORM2*A)。用Triton X-100和甘油在4.5-5.4的pH梯度中IEF后，根据它们的相对迁移率以字母数字的方式命名这些变体。对于重复的基因，在两个等位基因的组合名称上添加前缀，例如ORM1*DB9S。沉默等位基因通常命名为ORM1*Q0和ORM2*Q0。此外，还讨论了疾病对IEF后ORM带型的影响。
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 ORM*F1, ORMI*F2, ORMI*S and ORM2*M were adopted for the four common alleles instead of ORM1*1, ORM1*3, ORM1*2 and ORM2*1 (ORM2*A), respectively. The variants were designated alphanumerically 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. ORM1*dB9S. Silent alleles were named ORM1*Q0 and ORM2*Q0 conventionally. In addition, the effects of diseases to ORM band patterns after IEF are also discussed.
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DOI：
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