一个May-Hegglin异常家系的分子诊断分析  

Molecular diagnosis of a family with May-Hegglin anomaly

作　　者：吴超利 莫武宁[2] Wu Chaoli;Mo Wuning(Department of Laboratory Medicine,Affiliated Hospital of Guilin Medical College,Guilin,Guangxi 541001,China;Department of Laboratory Medicine,the First Affiliated Hospital of Guangxi Medical University,Nanning,Guangxi 530021,China)

机构地区：[1]桂林医学院附属医院检验科,541001 [2]广西医科大学第一附属医院检验科,南宁530021

出　　处：《中华医学遗传学杂志》2020年第1期60-63,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析1个May-Hegglin异常(May-Hegglin anomaly,MHA)家系非肌性肌球蛋白重链9(MYH9)基因的变异类型、中性粒细胞包涵体的成分以及先证者的血小板聚集功能。方法用PCR扩增先证者MYH9基因的第1、10、16、24、25、26、30、31、33、38、40外显子及其侧翼序列,对扩增产物进行测序分析。用间接免疫荧光法检测MYH9基因编码蛋白的表达变化。用血栓弹力图分析其血小板聚集功能。结果先证者及其次子携带MYH9基因第38外显子c.5521G>A杂合错义变异,其包涵体成分含有聚集的NMMHC-ⅡA蛋白,血小板聚集功能增强。结论c.5521G>A变异基因型和表现型共分离,很可能是MHA的致病变异,且属于中国人群中的常见变异类型。血栓弹力图分析可了解血小板的聚集功能,有助于评估MHA患者的出血风险。Objective To explore the molecular basis for a pedigree affected with May-Hegglin anomaly(MHA).Methods Peripheral blood samples were collected and subjected to DNA extraction.Exons 1,10,16,24,25,26,30,31,33,38 and 40 and flanking sequences of the MYH9 gene were subjected to PCR amplification and Sanger sequencing.Changes in protein expression were determined by an indirect immunofluorescence assay.Platelet aggregation function of the proband was assessed by thromboelastogram.Results The proband and his second son both carried a heterozygous 5521G>A(GAG→AAG)missense variant in exon 38 of the MYH9 gene,leading to p.Glu1841Lys substitution at position 1841 of amino acid sequence.Immunofluorescence showed inclusions containing NMMHC-ⅡA.Thromboelastogram suggested enhanced platelet aggregation function of the proband.Conclusion The c.5521G>A variant of MYH9 gene has co-segregated with the phenotype of MHA in this pedigree.To assess the aggregation function of platelet by thromboelastogram can predict the risk of bleeding in MHA patients.

关 键 词：MAY-HEGGLIN异常 MYH9基因 变异 间接免疫荧光法 血栓弹力图检测 

分 类 号：R5[医药卫生—内科学]