CLONING AND ANALYSIS OF THE GENE DEFECT CAUSING XLP

描述（改编自研究者摘要）：X连锁 淋巴组织增生性疾病（XLP）是一种毁灭性的遗传性疾病， 免疫系统对感染性疾病做出异常和不利的反应 病毒，特别是EB病毒（EBV）。 这种疾病是遗传的， 这是一种严格的X连锁隐性遗传，在很小的时候就折磨着男孩。 XLP导致免疫系统受损，因此与高 发病率和死亡率;患者通常无法存活到第二个月 十年的生活。 XLP潜在的遗传缺陷尚不清楚，尽管 致病位点定位于DXS 982和DXS 75之间的Xq 25。 雨宫博士 建议采用定位克隆的策略克隆XLP基因。 他 开发了一种新的大片段克隆系统， 克隆的努力。 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。 一旦克隆， XLP基因的生物学功能以及XLP基因与 和恶性淋巴瘤进行研究。 此外，测定 临床诊断和可能的基因治疗策略将是 开发

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.