人类系统性红斑狼疮的遗传学研究

　　5　凋亡基因和SLE

　　近来人们认识到凋亡，又叫程序性细胞死亡，在免疫调节中起重要作用。在某些小鼠株，lp r和gld突变导致淋巴细胞增生，产生与人类SLE和干燥综合征类似的自身免疫反应。最近一 个大的进展是将lpr缺失定位在Fas，而gld缺失在Fas配体。小鼠模型遗传缺陷引起的免疫功 能变化是复杂的，参与凋亡的基因有TNF和TNF受体家族、bcl-2、p53、myc等。

　　综上所述，尽管人们对SLE遗传机制有了一定的认识，但由于种族差异、临床异质性(可能为 遗传异质性)、较低的外显率以及环境因素的作用等，导致研究人类SLE易感性存在很多困难 。

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