目的探讨LYST基因突变导致的蛋白差异表达在罕见病Chediak-Higashi综合征(Chediak-Higashi syndrome,CHS)中的临床诊断应用价值。方法利用免疫印迹(Western blotting,WB)检测CHS患儿、患儿直系家属以及健康志愿者的外周血白细胞中LYST蛋白表达量。结果患儿白细胞中LYST蛋白出现两种截短体(p.R1104X、p.N2535Kfs X2),呈高表达,而患儿直系家属以及健康志愿者白细胞中未检测到LYST蛋白表达。结论 CHS患儿外周血白细胞LYST截短体表达量较健康人显著增加。因此,免疫印迹检测LYST截短体的高表达可以作为辅助临床诊断CHS的一种新方法。 Objective To investigate the clinical value of differential expression of LYST gene in the diagnosis of Chediak-Higashi syndrome (CHS). Methods Western blotting (WB) was used to detect the expression of LYST protein in peripheral blood leukocytes of children with CHS, pedigrees and healthy volunteers. Results There were two kinds of truncated LYST protein (p.R1104X, p.N2535Kfs X2) in leucocytes of children with high expression. However, LYST protein expression was not detected in leukocytes of children and healthy volunteers. Conclusion The expression of LYST truncated leukocyte in children with CHS is significantly higher than that in healthy people. Therefore, immunoblotting to detect the high expression of LYST truncate can be used as a new method to help clinical diagnosis of CHS.