关键词: 非肌球蛋白重链9基因相关疾病；临床表型；基因；突变；系谱；遗传学

Abstract:

To study the clinical phenotypes and the   molecular biological characteristics  in a family with nonmuscle myosin heavy chain 9 related disease（MYH9-RD）and reveal the molecular pathogenesis mechanism of MYH9-RD .Methods A screen inclinding clinical and laboratory features was made for this family,the platelet count and peripheral blood morphology were observed  by automatic blood cell counter and light microscope,respectively. Polymerase chain reaction and direct sequcing method were used to analyze the mutation of MYH9 gene. Results There were 15 patients with MYH9-RD in this family,all the patients not only had thrombocytopenia,giant platelets and inclusion bodies in granulocytes,but also had easy bruising and mild to moderate bleeding tendency;Moreover,some even suffered from serious phenotypes,such as leucocythemia,glaucoma,cataract,proteinuria,abnormal hepatic function,hyperlipemia and disordered action of heart etc. No pathgenic mutation was detected in the exon or franking regions of MYH9 gene of patients.Conclusion The family patients are diagnosed as MYH9-RD by clinical and laboratory features,and the complicated phenotypes of the patients are may be related to the no pathgenic mutation in the 40 exon of MYH9 gene of patients.

Key words: nomuscle myosin heavy chain 9 related disease;clinical