Analysis of immunoglobulin VH and TCR cbeta polymorphisms in a large family with thyroid autoimmune disorder.

F Fakhfakh, A Maalej, H Makni, M Abid, J Jouida, M Zouali, H Ayadi
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引用次数: 15

Abstract

In order to investigate the association of TCR Cbeta and immunoglobulin (Ig) VH polymorphisms with thyroid autoimmune diseases (TAD), we analyzed restriction-endonuclease-generated polymorphisms using T-cell receptor (TCR) Cbeta and VH gene-family-specific probes. We tested genomic DNAs of patients isolated from a large family affected with Graves' disease and Hashimoto's thyroiditis as well as the genomic DNA of unrelated Tunisian controls. Hybridization of BglII-digested DNA with a TCR Cbeta probe revealed two alleles of 9.2 and 10 kb. These Cbeta polymorphisms have already been found in the Caucasian population. However, there was no abnormal distribution of this polymorphism in patients with TAD, compared to related healthy individuals and to unrelated Tunisian controls. Besides, there was a low VH polymorphism in members of the family affected with TAD. Analysis of the Ig gene families revealed no restriction site polymorphism pattern specific for TAD.

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甲状腺自身免疫性疾病大家族免疫球蛋白VH和TCR cbeta多态性分析
为了研究TCR Cbeta和免疫球蛋白(Ig) VH多态性与甲状腺自身免疫性疾病(TAD)的关系,我们使用t细胞受体(TCR) Cbeta和VH基因家族特异性探针分析了限制性内切酶产生的多态性。我们检测了从一个患有格雷夫斯病和桥本甲状腺炎的大家庭中分离出来的患者的基因组DNA,以及不相关的突尼斯对照的基因组DNA。bglii消化的DNA与TCR Cbeta探针杂交,发现两个等位基因分别为9.2和10 kb。这些Cbeta多态性已经在高加索人群中被发现。然而,与相关的健康个体和无关的突尼斯对照相比,TAD患者中没有这种多态性的异常分布。此外,TAD家族成员的VH多态性较低。Ig基因家族分析未发现TAD特异性的限制性位点多态性模式。
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