关键词: 穿孔素, 蛋白表达, 基因, 突变, 淋巴细胞增殖病

Abstract:

BACKGROUND: Perforin-dependent granule mediated cytolysis is one of major pathways of cell-mediated cytotoxicity. Recently, perforin gene mutation has been found to be related to lymphoproliferative disease.
OBJECTIVE: To summarize the research progress in perforin gene, elucidate the relationship between perforin gene mutation and protein expression, and further investigate the relationship between perforin gene mutation and lymphoproliferative disease.
METHODS: A computer-based retrieval was performed to search manuscripts describing the mechanism underlying drug-tolerance of bacterial biomembrane published between January 1998 and December 2008 in CNKI and PubMed databases with the key words “ perforin, gene, mutation, lymphoproliferative disease” in Chinese and English languages. Manuscripts with contents similar to perforin gene mutation and those published recently or in high-impact journals were selected. A total of 285 papers were initially retrieved, and 65 of which were included in the final analysis.
RESULTS AND CONCLUSION: Mutations in perforin gene result in the decrease or absence of perforin protein and its activity, so that immunological surveillance to virus-infected and transformed tumor cells is compromised and lymphoproliferative disease even cancer may occur. A further understanding of perforin gene mutation and protein expression would help elucidate the relationship between perforin gene mutation and lyphoproliferative disease.