title: [Clinical and molecular-biological study of a May-Hegglin anomaly family].
abstract: OBJECTIVE
  To study the changes of platelet in May-Hegglin anomaly (MHA) and the molecular pathogenesis mechanism.
  
  
  METHODS
  Peripheral blood was drawn from the MHA proband, her father and her uncle. Platelet count and morphology were examined by automatic blood cell counter and microscopy, respectively. The platelet membrane protein was examined by flow cytometry. Membrane antibodies were determined by ELISA. PCR was used to amplify the exons 25, 31 approximately 32, 38 and 40 of the MYH 9 gene in the MHA patient and her diseased father. Furthermore, PCR products were sequenced, a specific point mutation was identified and inclusions (Dohle's body) in the neutrophil was detected by indirect immunofluorescence technique.
  
  
  RESULTS
  It was proved that in MHA patients, platelet count was higher by cell counter than by microscope (P < 0.01). Giant platelet was 94% but platelet membrane proteins (CD41, CD61, CD42A, CD42b) were in normal range. Membrane antibodies was undetectable. An A5521G mutation (GAG-->AAG) in the exon 38 was found in the proband and her diseased father, resulting in a characteristic change of NMMHC-A1841 (Glutamic acid-->Arginine), which was not found in other members of the family and in normal controls. Spindle-like inclusions with fluorescence were clearly displayed in neutrophil cytoplasm.
  
  
  CONCLUSIONS
  The molecular pathogenesis mechanism of May-Hegglin anomaly is the mutation in MYH 9 gene.
authors.affiliation: Institute of Hematology & Oncology, Harbin 150010, China.
authors.forename: Xiu-ru
authors.initials: XR
authors.lastname: Shao
authors.forename: Jia-zeng
authors.initials: JZ
authors.lastname: Li
authors.forename: Jun
authors.initials: J
authors.lastname: Ma
authors.forename: Zhao-min
authors.initials: ZM
authors.lastname: Zhan
authors.forename: Hong
authors.initials: H
authors.lastname: Liang
authors.forename: Xi-nan
authors.initials: XN
authors.lastname: She
authors.forename: Hai-ling
authors.initials: HL
authors.lastname: Lu
authors.forename: Lai-ci
authors.initials: LC
authors.lastname: Wang
authors.forename: Chui-ming
authors.initials: CM
authors.lastname: Jia
authors.forename: Li-jie
authors.initials: LJ
authors.lastname: Wu
authors.forename: Ming-hua
authors.initials: MH
authors.lastname: Jin
authors.forename: Li-jun
authors.initials: LJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D001483:Base Sequence; D001792:Blood Platelets / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005434:Flow Cytometry; D006098:Granulocytes / Q000378:metabolism / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010976:Platelet Count; D010980:Platelet Membrane Glycoproteins / Q000378:metabolism; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics* / Q000473:pathology
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D010980:Platelet Membrane Glycoproteins; D018995:Myosin Heavy Chains