Résumé
Immunophenotype is critical for diagnosing common B-cell acute lymphoblastic leukemia (common ALL) and detecting minimal residual disease. We developed a protocol to explore the immunophenotypic profiles of common ALL based on the expression levels of the antigens associated with B lymphoid development, including IL-7Rα (CD127), cytoplasmic CD79a (cCD79a), CD19, VpreB (CD179a), and sIgM, which are successive and essential for progression of B cells along their developmental pathway. Analysis of the immunophenotypes of 48 common ALL cases showed that the immunophenotypic patterns were highly heterogeneous, with the leukemic cell population differing from case to case. Through the comprehensive analysis of immunophenotypic patterns, the profiles of patient-specific composite leukemia cell populations could provide detailed information helpful for the diagnosis, therapeutic monitoring, and individualized therapies for common ALL.
Sujets)
Adulte , Femelle , Humains , Mâle , Adulte d'âge moyen , Antigènes CD19 , Métabolisme , Lymphocytes B , Allergie et immunologie , Métabolisme , Antigènes CD79 , Métabolisme , Pseudochaines légères des immunoglobulines , Métabolisme , Immunophénotypage , Leucémie-lymphome lymphoblastique à précurseurs B et T , Allergie et immunologie , Anatomopathologie , Récepteurs à l'interleukine-7 , MétabolismeRésumé
<p><b>OBJECTIVE</b>To investigate the possible association between ZNF230 gene and azoospermia.</p><p><b>METHODS</b>Screening for mutation of all 6 exons of ZNF230 gene was performed by denaturing high performance liquid chromatography(DHPLC) in 99 patients with azoospermia and in 115 healthy men as controls.</p><p><b>RESULTS</b>An A-->G transition at nucleotide 316 in exon 6 was identified. There were significant differences in the distribution profiles of both allele and genotype frequencies between patient group and control group (P < 0.01 and P < 0.05, respectively). In addition,there was a statistically significant difference in the serum follicle stimulating hormone (FSH) level between the patients with GG/GA genotype and those with AA genotype (P < 0.05).</p><p><b>CONCLUSION</b>ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level.</p>