RESUMO
In order to explore the distribution frequency of endothelial protein C receptor (EPCR) gene A6936G variant and to study the correlation between this mutation and cerebral infarction in Chinese Han population of Hubei province district. The genotype and allele frequencies of EPCR A6936G were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 380 cerebral infarction patients and 380 healthy Chinese Han persons. The results indicated that the frequencies of A/A, A/G and G/G genotypes in cerebral infarction group were 77.1%, 22.1% and 0.8% respectively. While the frequencies of A/A and A/G genotypes in control group were 88.2% and 11.8%, and without G/G genotype. It is concluded that A6936G polymorphism of EPCR can be detected in Chinese Han population of Hubei province district, which may be correlated with the increasing risk of thrombosis in cerebral infarction patients.
Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Antígenos CD , Genética , Povo Asiático , Genética , Estudos de Casos e Controles , Infarto Cerebral , Genética , Receptor de Proteína C Endotelial , Frequência do Gene , Genótipo , Polimorfismo Genético , Receptores de Superfície Celular , GenéticaRESUMO
To investigate the interrelationship among morphology, immunology and clinical features in adult acute myeloid leukemia cases with 11q23 chromosome abnormalities, 210 newly diagnosed AML patients were retrospectively analyzed by cell morphology, immunophenotyping, G-banding or R-bamding analysis and clinical features. The results showed that 13 cases were found with 11q23 rearrangements or deletion (the incidence rate was 6.19%.), totally 84.6% showed the involvement with the monocytic lineage. Immunophenotyping tests indicated that AML cases with 11q23 abnormalities usually expressed the marker molecules of hematopoietic stem or progenitor cells, monocytic lineage cells, such as CD34, CD117, CD14, CD15 and CD11b. The complete remission rate of the cases with 11q23 abnormalities was comparable to that of the cases with normal karyotype (P = 0.075), but the median disease-free survival in the former was significantly lower than that in the latter (P < 0.001). It is concluded that the category AML with 11q23 abnormalities accounts for 6.19% of all the newly diagnosed AML cases, that seems to be closely associated with monocytic differentiation blocking with a dismal prognosis.
Assuntos
Adulto , Humanos , Doença Aguda , Aberrações Cromossômicas , Cromossomos Humanos Par 11 , Genética , Imunofenotipagem , Cariotipagem , Leucemia Mieloide , Genética , Alergia e Imunologia , Patologia , Prognóstico , Estudos Retrospectivos , Análise de SobrevidaRESUMO
To evaluate the impact of trisomy 8 on cytobiological and clinical features of acute myelomonocytic and monocytic leukemia (M(4), M(5)), a total of 56 cases of acute myelomonocytic and monocytic leukemia were investigated. Karyotypes were analyzed by G-banding or R-banding. The immunotypes in all cases were detected by flow cytometry. And the clinical characteristics at the first visit were analyzed retrospectively. The results showed that thirty-four of 56 (60.7%) patients had normal cytogenetics; 10 (17.9%) patients had trisomy 8 in their karyotypes, including 3 (5.4%) patients with trisomy 8 as the sole aberration; and 12 (21.4%) patents had other cytogenetic abnormalities (except trisomy 8). All trisomy 8 cases demonstrated a increased expression frequency of surface markers of myeloid progenitor cells CD34 (P < 0.01) and CD117 (P < 0.05) and a decreased expression frequency of surface markers of mature monocytes CD11c (P < 0.01) and CD14 (P < 0.05), compared with normal cytogenetics cases. Patients with trisomy 8 were slightly older (P < 0.05), which had lower percentages of peripheral blasts (P < 0.05) and lower WBC (P < 0.05) than the patients without trisomy 8. Patients with trisomy 8 had a shorter disease-free survival time than that of patients with normal cytogenetics (P < 0.05). It is concluded that trisomy 8 may play an important role in the pathogenesis and progression of acute myelomonocytic/monocytic leukemia (M(4)/M(5)), whic seems to be related with a block in differentiation of monocytes. Therefore, trisomy 8 may be an adverse prognostic factor for patients with M(4) or M(5).