RESUMO
OBJECTIVE@#To analyze the gene polymorphisms of patients with lymphoma-associated hemophagocytic syndrome in Longyan area, Fujian province.@*METHODS@#A total of 125 patients with lymphoma-associated hemophagocytic syndrome in Longyan, Fujian province, admitted to Longyan First Hospital from May 2017 to November 2020 were selected. Peripheral venous blood was collected from all the patients, and the genotypes of perforin 1 (PRF1) and interleukin-10 (IL-10) gene loci were detected by PCR-fluorescence probe method, and the correlation between PRF1 and IL-10 gene polymorphisms and lymphoma-associated hemophagocytic syndrome was analyzed.@*RESULTS@#The mutation frequencies of PRF1 gene loci rs885821 (C>T), rs885822 (C>T), rs1889490 (G>A) in patients with lymphoma-associated hemophagocytic syndrome were 10.40%, 78.8% and 64.4%, respectively. The mutation frequencies of rs1800872 (A>C), rs1800871 (C>T) and rs1800896 (G>A) of IL-10 loci were 56.0%, 45.2% and 77.6%, respectively.@*CONCLUSION@#PRF1 and IL-10 gene loci were polymorphic in patients with lymphoma-associated hemophagocytic syndrome in Longyan area, Fujian province. Alleles C and G of PRF1 and IL-10 were risk factors, and alleles T and A were protective factors.
Assuntos
Humanos , Genótipo , Interleucina-10/genética , Linfo-Histiocitose Hemofagocítica/genética , Linfoma/genética , Perforina/genética , Polimorfismo GenéticoRESUMO
No abstract available.
Assuntos
Feminino , Humanos , Lactente , Povo Asiático/genética , Sequência de Bases , Células da Medula Óssea/citologia , Infecções por Citomegalovirus/diagnóstico , Infecções por Vírus Epstein-Barr/diagnóstico , Citometria de Fluxo , Heterozigoto , Células Matadoras Naturais/citologia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Perforina/genética , Fagocitose , Polimorfismo de Nucleotídeo Único , República da Coreia , Análise de Sequência de DNARESUMO
Perform gene [PRF1] mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis [FHL], an immune disorder of infancy and early childhood. Cytotoxic T and natural killer [NK] cell activities are remarkably reduced or absent in FHL patients. We report the first cases of familial hemophagocytic lymphohistiocytosis in an Iranian family with two siblings. Exons 2 and 3 of the PRF1 gene were analyzed by polymerase chain reaction [PCR] amplification and direct sequencing. Perform gene mutation[s] were detected in none of the cases. The result of our study indicates that not much evidence is present concerning a correlation between perforin gene defects and familial hemophagocytic lymphohistiocytosis etiology in these cases