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基于聚合酶链反应的免疫球蛋白κ同种异型标记基因分型显示Km与κ可变区存在等位基因关联。

Polymerase chain reaction-based genotyping for allotypic markers of immunoglobulin kappa shows allelic association of Km with kappa variable segment.

作者信息

Moxley G, Gibbs R S

机构信息

Department of Internal Medicine, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298-0263.

出版信息

Genomics. 1992 May;13(1):104-8. doi: 10.1016/0888-7543(92)90208-a.

Abstract

Allotypic markers of immunoglobulin kappa (Km) may be determined using a novel method of amplification of the constant segment (C kappa) (IGKC) by polymerase chain reaction (PCR) followed by restriction enzyme digestion. Restriction sites in the C kappa PCR product correlate with allotypic differences among Km(1), Km(1,2), and Km(3) alleles. An AccI site in the PCR product correlates with Km(3); and presence or absence of a MaeII site correlates with the Km(1) or Km(1,2) allele, respectively. Km allelic frequencies were determined in a Caucasian population and compared to genotypic frequencies of nearby polymorphic markers. Among unrelated individuals with rheumatoid arthritis (RA) and controls, there is no evidence of allelic association between CD8A and polymorphic markers of the immunoglobulin kappa region [a V kappa (IGKV) BglII polymorphism about 24 kb centromeric to C kappa, Km allotype, and a SacI polymorphism 3.5 kb telomeric to the C kappa segment]. Similarly, there is no allelic association of the SacI C kappa polymorphism with Km or with the BglII V kappa polymorphism. However, there is evidence of allelic association of V kappa B3 and Km, specifically between the V kappa BglII 2.2-kb allele and Km(3) and also between the V kappa 3.5-kb allele and Km(1,2). Therefore, Km typing by PCR-based methods suggests the presence of allelic association between polymorphisms within the coding region of the C kappa segment and the nearest V kappa segment.

摘要

免疫球蛋白κ(Km)的同种异型标记物可通过一种新型方法来确定,该方法是先利用聚合酶链反应(PCR)扩增恒定区(Cκ)(IGKC),随后进行限制性内切酶消化。Cκ PCR产物中的限制性位点与Km(1)、Km(1,2)和Km(3)等位基因之间的同种异型差异相关。PCR产物中的一个AccI位点与Km(3)相关;MaeII位点的有无分别与Km(1)或Km(1,2)等位基因相关。在白种人群中确定了Km等位基因频率,并与附近多态性标记物的基因型频率进行了比较。在患有类风湿性关节炎(RA)的无关个体和对照组中,没有证据表明CD8A与免疫球蛋白κ区域的多态性标记物之间存在等位基因关联[a位于Cκ着丝粒约24 kb处的Vκ(IGKV)BglII多态性、Km同种异型以及位于Cκ片段端粒3.5 kb处的SacI多态性]。同样,SacI Cκ多态性与Km或BglII Vκ多态性之间也没有等位基因关联。然而,有证据表明Vκ B3与Km之间存在等位基因关联,具体而言,Vκ BglII 2.2-kb等位基因与Km(3)之间以及Vκ 3.5-kb等位基因与Km(1,2)之间存在关联。因此,基于PCR的方法进行Km分型表明,Cκ片段编码区内的多态性与最邻近的Vκ片段之间存在等位基因关联。

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