CLONING AND ANALYSIS OF THE GENE DEFECT CAUSING XLP

描述(改编自《调查者摘要》)：X链接 淋巴增生性疾病(XLP)是一种破坏性的遗传性疾病 免疫系统会对传染性疾病做出异常和不利的反应 药物，特别是爱泼斯坦-巴尔病毒(EBV)。这种疾病遗传于 一种严格的X连锁隐性时尚，在很小的时候就困扰着男孩。 XLP导致免疫系统受损，因此与高 发病率和死亡率；患者往往活不到第二年 十年的生命。XLP的潜在遗传缺陷尚不清楚，尽管 疾病基因定位于DXS982和DXS75之间的Xq25。阿米亚医生 提出了采用定位克隆策略克隆XLP基因。他 已经开发出一种新颖的大片段克隆系统，应该可以促进 克隆努力。XLP关键区域内的候选基因将 在一组XLP患者身上进行测试，以确定XLP基因。一旦被克隆， XLP基因的生物学功能及其与XLP之间可能的联系 和恶性淋巴瘤将被调查。此外，对 临床诊断和可能的基因治疗策略将是 发展起来的。

DESCRIPTION (Adapted from the Investigator's Abstract): X-linked lymphoproliferative disease (XLP) is a devastating, inherited disorder in which the immune system responds abnormally and adversely to infectious agents, particularly Epstein-Barr virus (EBV). The disease is inherited in a strict X-linked recessive fashion, and afflicts boys at a very early age. XLP results in a compromised immune system, and is thus associated with high morbidity and mortality; patients often do not survive to their second decade of life. The underlying genetic defect of XLP is unknown, though the disease locus has been mapped to Xq25 between DXS982 and DXS75. Dr. Amemiya proposes to clone the XLP gene using the strategy of positional cloning. He has developed a novel, large-fragment cloning system that should facilitate the cloning effort. Candidate genes within the critical region of XLP will be tested on a panel of XLP patients to identify the XLP gene. Once cloned, the biological function of the XLP gene and the possible link between XLP and malignant lymphoma will be investigated. In addition, assays for clinical diagnosis and strategies for possible gene therapy will be developed.