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Gaucher′s病是一种常色体隐性遗传的溶酶体贮积病,病因为葡萄糖脑苷脂酶功能缺陷,由此导致糖鞘脂在单核—巨噬细胞中沉积。该病主要累及骨髓、肝、脾、骨骼,严重的也累及到脑。对Gaucher′s病葡萄糖脑苷脂酶的分子分析提示:相关基因的某些突变可能与疾病严重程度有关。另外,已确诊神经系统受累或葡萄糖脑苷酶激活因子缺乏的患者,使用酶替代疗法无效。因此,需要一种准确简便的基因分析方法。使该病的诊断和筛查较为容易,并可以检出对治疗有效的个体。由于存在多个突变的等位基因,以及在靠近染色体1q21处结构基因位置有一个可转录
Gaucher’s disease is an autosomal recessive lysosomal storage disease that is caused by a malfunction of glucocerebrosidase resulting in the deposition of glycosphingolipids in mononuclear macrophages. The disease mainly affects the bone marrow, liver, spleen, bone, serious also involving the brain. Molecular analysis of Gaucher’s disease glucocerebrosidase suggests that some mutations in related genes may be related to disease severity. In addition, the use of enzyme replacement therapy is ineffective in patients who have been diagnosed with neurological involvement or lack of GAP activator. Therefore, there is a need for an accurate and convenient method of gene analysis. It is easier to diagnose and screen for the disease and detect individuals who are effective for treatment. Due to the presence of multiple mutated alleles and a transcribable position of the structural gene near chromosome 1q21