Aparicio J M, Wakisaka A, Takada A, Matsuura N, Yoshiki T
Department of Pathology, Hokkaido University School of Medicine, Sapporo, Japan.
Dis Markers. 1990 Sep-Oct;8(5):283-94.
Polymorphism of the genes encoding the alpha, beta, and gamma chains of the human T-cell receptor (TCRA, TCRB, and TCRG), insulin gene (INS), and three closely linked polymorphic genes on chromosome 11q23, Thy-1 (THY1), T3-D (CD3D), and c-ets proto oncogene (ETS1) were investigated among 56 unrelated patients with insulin-dependent diabetes mellitus (IDDM) and 48 healthy controls. Only eight of the 17 enzymes examined revealed restriction fragment length polymorphism (RFLP), with the use of TCRA, TCRB, and TCRG. No significant association was observed. Polymorphism after BglI, SstI, and TaqI digestion was observed for the INS gene. In consideration of the three classes within the insulin-gene-linked DNA polymorphism alleles, A1 and more rarely A2 alleles were found, but with no significant frequencies. THY1 and CD3D genes were polymorphic after MspI digestion but no significant association was observed. Conversely, the ETS1 gene showed polymorphism after TaqI, SstI, and AvaII were used. Only a significant AvaII-polymorphic fragment (p less than 0.03) was found. However, this significant association disappeared when the correct p value was applied. These results were compared to findings in Caucasians and some differences were noted. The polymorphism observed in this study may be useful in genetic studies on immunologically affected populations.
在56名非亲属的胰岛素依赖型糖尿病(IDDM)患者和48名健康对照者中,研究了人类T细胞受体α、β和γ链(TCRA、TCRB和TCRG)、胰岛素基因(INS)以及11号染色体q23上三个紧密连锁的多态性基因Thy-1(THY1)、T3-D(CD3D)和c-ets原癌基因(ETS1)的多态性。在所检测的17种酶中,仅8种酶在用TCRA、TCRB和TCRG时显示出限制性片段长度多态性(RFLP)。未观察到显著关联。观察到INS基因在BglI、SstI和TaqI消化后存在多态性。考虑到胰岛素基因连锁DNA多态性等位基因中的三类,发现了A1等位基因,较少见的还有A2等位基因,但频率无显著差异。THY1和CD3D基因在MspI消化后具有多态性,但未观察到显著关联。相反,ETS1基因在使用TaqI、SstI和AvaII时显示出多态性。仅发现一个显著的AvaII多态性片段(p<0.03)。然而,当应用正确的p值时,这种显著关联消失了。将这些结果与高加索人的研究结果进行比较,发现了一些差异。本研究中观察到的多态性可能有助于对免疫受影响人群的遗传学研究。