补体C1q基因调节区多态性与武汉地区人群狼疮肾炎易感性的关系

目的 探讨C1q基因调节区多态性与武汉地区人群狼疮肾炎（LN）易感性的关系。 方法 采用限制性片段长度多态性聚合酶链反应（PCR-RFLP）方法检测30例LN患者、20例非LN肾病患者和10例健康对照者中C1q基因调节区Aexon2、Bexon1、Bexon2、Cexon2的多态性，对发现突变位点的序列进行直接测序。利用χ2检验探讨其与LN易感的关系。 结果 LN患者和非LN肾病患者的C1q基因调节区未发现国外已报道的C1q基因调节区突变位点，即C1qAexon2的C→T、C1qBexon1的G→A、C1qBexon2的G→A、C1qCexon2的C缺失。结论 未发现C1q基因调节区多态性位点与武汉地区人群LN易感性有关，但不排除样本量较少对结果的影响。

Association of complement C1q gene polymorphism with the susceptibility to lupus nephritis in the people of Wuhan district, Hubei province, China

Objective To investigate the association of complement C1q polymorphism with the susceptibility to lupus nephritis (LN) in the people of Wuhan district,Hubei province, China. Methods The polymorphie frequency at C1q region of accommodation Aexon2, Bexonl,Bexon2,Cexon2 in 30 LN patients,20 non-LN nephropathy controls and 10 healthy controls were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)and then the sequence of mutational site was detected directly.Association of C1q polymorphism with LN was analyzed by chi-square criterion. Results Already repoaed mutable points oversea,such as C1qAexon2:C→T,C1qBexon1:G→A,C1qBexon2:G→A,C1q Cexon2:C deletion,in C1q region of accommodation were not detected in 30 LN patients,20 nonLN nephropathy controls and 10 healthy controls. Conclusion Polymorphism in the regulatory region of C1q region of accommodation is not associated with the susceptibility to LN in the people of Wuhan district,Hubei province,China,which may be influenced by a small number of subjects.