摘要目的 分析该非肌性肌球蛋白重链9基因相关疾病(MYH9-RD)家系患者多种血小板膜糖蛋白的表达.方法 采集MYH9-RD家系中11例患者和7名健康对照者的外周血；应用流式细胞术对血小板膜糖蛋白GPⅡb/Ⅲa(CD41/61)、GP Ⅰ a(CD49b)、GPⅠb/Ⅸ/Ⅴ(CD42a),GPⅠ b(CD42b)和GPⅣ(CD36)进行检测.结果 MYH9-RD家系GPⅡb/Ⅲa(CD41/61)、GP Ⅰ b(CD42b)、GPⅣ(CD36)和GP Ⅰ b/Ⅸ/Ⅴ(CD42a)复合物表达量分别为653.7±192.7、420.0±151.3、667.7±371.3和236.4±64.2,高于对照组(分别为406.7±126.1、181.2±29.3、271.4±91.6和136.1±23.5,P＜0.01),差异具有统计学意义；MYH9-RD家系患者组GP Ⅰ a(CD49b)表达量为192.2±143.4,较对照组(139.1±54.9)稍有下降,差异无统计学意义(P＞0.05).结论 本MYH9-RD家系患者临床表型复杂多样可能与血小板膜糖蛋白表达量有关.

abstractsObjective To explore the pathogenic mechanism by detecting the expression of membrane glycoprotein in the platelets of nonmuscle myosin heavy chain 9 related disease (MYH9-RD)patients.Methods Periperal bloods were obtained from 11 MYH9-RD patients and 7 normal family members.Flow cytometry was used for detecting the expression of the platelet membrane glycoprotein including GP Ⅱ b/Ⅲa(CD41/61),GP Ⅰ a(CD49b),GP Ⅰ b/Ⅸ/Ⅴ (CD42a) GP Ⅰ b(CD42b) and GPⅣCD36).Results The expression fluorescence intensity of platelet membrane glycoprotein GP Ⅱ b/Ⅲ a CD41/61),GPⅠa(CD49b),GP Ⅰ b/Ⅸ/Ⅴ (CD42a) GP Ⅰ b(CD42b) and GPⅣ (CD36) are 653.7 ±192.7,420.0 ± 151.3,667.7 ± 371.3 and 236.4 ± 64.2 respectively,which are significantly higher than those in normal controls (406.7 ± 126.1,181.2 ± 29.3,271.4 ± 91.6 and 136.1 ± 23.5 ; P ＜ 0.01) ; The expression of GP Ⅰ a(CD49b) was lower in patients with MYH9-RD (139.1 ± 54.9) than that in normal controls (192.2 ± 143.4),but there was no significant difference (P ＞ 0.05).Conclusion In our study,the diverse clinical manifestations in patients with MYH9-RD is probably associated with the expression level of platelet membrane glycoprotein