LYST蛋白表达量在Chediak-Higashi综合征临床诊断中的应用

The Application of Detecting LYST Expression by Western Blotting in Clinical Diagnosis of Chediak-Higashi Syndrome

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 application of amino acid induced LYST differential expression in Chediak-Higashi Syndrome （CHS） diagnosis.Methods Western blotting was performed to detect the expression levels of wild-type LYST or truncations in peripheral blood white blood cells （WBC） of two CHS patients, their healthy lineal relatives and two unaffected healthy volunteers.Results Higher expression levels of two LYST truncations （p.R1104X, p.N2535KfsX2） were observed in WBC protein lysis of patients.However, there was no LYST signal in the five healthy samples.Conclusion The present study revealed that truncated LYST proteins are highly expressed in peripheral blood WBC of two CHS patients, while no LYST expression was found in healthy controls.Our study presents a new accessory diagnosis approach of CHS disease by detecting highly expressed LYST truncations.