Singh R, Mullinax P F, Moxley G
Department of Internal Medicine, Medical College of Virginia, Virginia Commonwealth University, Richmond.
J Rheumatol. 1994 May;21(5):839-42.
To determine whether systemic lupus erythematosus (SLE) is associated with a specific Km genotype or allele. Specific genetic markers located both within the major histocompatibility complex (MHC) and outside the MHC have been associated with SLE. However, serologic studies of Km allotypes have led to contradictory results.
A novel molecular genetic technique was used to determine Km genotypes. First, the kappa constant segment (C kappa) was amplified from genomic DNA by the polymerase chain reaction (PCR). Then the resulting PCR product was subjected to restriction enzyme digestion. AccI cleavage of the C kappa PCR product correlated with Km (3) allotype, and presence or absence of an MaeII site correlated with Km (1) or Km (1, 2), respectively.
There was no difference in the distribution of Km genotypes or alleles between Caucasian patients with SLE (n = 26) and controls (n = 107). Clinical features did not differ in 4 Km (1, 2) positive patients with SLE compared to 22 Km (1, 2) negative patients with SLE, nor did the frequency of anti-Sm or antinative DNA autoantibodies (2 Km (1, 2/3) versus 4 Km (3/3); and 1 versus 6, respectively). No Km (1, 2/3) positive individual had anti-La (anti-SSB) autoantibodies.
Genotypic frequencies of C kappa coding region markers (Km allotypes) do not differ between Caucasian patients with SLE and controls.
确定系统性红斑狼疮(SLE)是否与特定的Km基因型或等位基因相关。位于主要组织相容性复合体(MHC)内部和外部的特定遗传标记已与SLE相关。然而,关于Km同种异型的血清学研究结果相互矛盾。
采用一种新的分子遗传学技术来确定Km基因型。首先,通过聚合酶链反应(PCR)从基因组DNA中扩增kappa恒定区(Cκ)。然后将所得的PCR产物进行限制性酶切。Cκ PCR产物的AccI切割与Km(3)同种异型相关,MaeII位点的有无分别与Km(1)或Km(1,2)相关。
白种人SLE患者(n = 26)和对照组(n = 107)之间的Km基因型或等位基因分布没有差异。4例Km(1,2)阳性的SLE患者与22例Km(1,2)阴性的SLE患者相比,临床特征无差异,抗Sm或抗天然DNA自身抗体的频率也无差异(分别为2例Km(1,2/3)对4例Km(3/3);1例对6例)。没有Km(1,2/3)阳性个体具有抗La(抗SSB)自身抗体。
白种人SLE患者和对照组之间Cκ编码区标记(Km同种异型)的基因型频率没有差异。