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系统性红斑狼疮(SLE)患者家族中抗核抗体或SLE临床特征与TCR - A/Vβ基因座之间缺乏连锁关系。

Lack of linkage between anti-nuclear antibody or clinical features of systemic lupus erythematosus (SLE) and TCR-A/Vbeta loci in families of subjects with SLE.

作者信息

Huang Q, Morris D, Dunckley H, Grennan D, Manolios N

机构信息

Department of Rheumatology, Royal North Shore Hospital, St. Leonards, Sydney, NSW, Australia.

出版信息

Lupus. 1997;6(6):527-32. doi: 10.1177/096120339700600609.

Abstract

The role of the TCR-A and TCR-Vbeta genes in the genetic predisposition to SLE expression and anti-nuclear antibody (ANA) production were examined by linkage analysis in eighteen multiplex and forty-three simplex SLE families. All subjects were Caucasian. A significantly increased prevalence of positive ANAs in first-degree relatives of SLE patients from multiplex families was noticed compared to that of simplex families. Linkage between TCR-A/Vbeta genes and SLE expression and ANA production were analysed by affected sib-pair method. Results showed that the haplotypes identical by descent sharing TCR-A and TCR-Vbeta genes in the affected sib-pairs was not different from that expected (P = 0.93 and P = 0.74, respectively). There was no linkage between ANA positivity and TCR-A and TCR-Vbeta genes in ANA positive sib-pairs from both multiplex and simplex families. This study suggests that germline TCR-A and TCR-Vbeta gene loci confer no susceptibility to ANA and SLE expression.

摘要

通过对18个多发型和43个单发型系统性红斑狼疮(SLE)家族进行连锁分析,研究了TCR - A和TCR - Vβ基因在SLE表达的遗传易感性和抗核抗体(ANA)产生中的作用。所有受试者均为白种人。与单发型家族相比,多发型家族中SLE患者一级亲属的ANA阳性率显著增加。采用受累同胞对法分析TCR - A/Vβ基因与SLE表达及ANA产生之间的连锁关系。结果显示,受累同胞对中通过共同遗传共享TCR - A和TCR - Vβ基因的单倍型与预期无差异(P值分别为0.93和0.74)。在多发型和单发型家族的ANA阳性同胞对中,ANA阳性与TCR - A和TCR - Vβ基因之间均无连锁关系。本研究表明,种系TCR - A和TCR - Vβ基因位点对ANA和SLE表达无易感性。

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