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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.

Udgivelsesdato: 2009-May The ZNF230 gene is a recently cloned gene which is transcribed only in fertile male testes and may be related to human spermatogenesis. To characterize the multiple stage-specific transcription elements necessary for ZNF230 expression, we cloned ZNF230 promoter and constructed chimeric luciferase reporter Plasmids. Overexpression and site-directed mutation test were used to characterize the cis-element. The results showed ZNF230 gene promoter to be GC rich and not contain a TATA box. Deletion analysis of the 5'-flanking region of ZNF230 in HEK293 cells indicated that the sequence encompassing from nt -131 to +152 has a basal transcriptional activity. Site-directed mutation test and mithramycin A treatment demonstrated that the ZNF230 promoter contained a functional Sp1 site. Overexpression of the Sox5 protein activated the promoter activity. A 312-bp fragment surrounding the transcription start site exhibits a characteristic CpG island which overlaps with the promoter region. We also provided evidence that both the human and mouse znf230 promoter consist of Sp1 binding site and GC-rich sequences, suggesting Sp1 is required for the transcription of human and mouse ZNF230 genes. In conclusion, these findings suggest that ZNF230 is tightly controlled at transcriptional level and a common mechanism controls the basal transcription of ZNF230 gene.

To study the distribution of R219K polymorphism in ATP-Binding Cassette Transporter 1 (ABCA1) gene in Chinese Han population and the association of this polymorphism with coronary heart disease (CHD) . Genotypes were determined by PCR-RFLP approach in 417 unrelated healthy controls and 396 CHD patients. The frequencies of K allele and KK genotype for controls (0.465, 0.228) were significantly higher than those (0.381, 0.162) for patients (P0.05). When the patients were divided into two subgroups by onset-age, the frequencies of K allele and KK genotype for early-onset patients (0.34, 0.111) were lower than those (0.419, 0.205) for late-onset patients and those for controls (P0.05) , while there were no such differences between late-onset patients and controls. Patients with RR genotype had a higher plasma concentration of triglycerides (TG) when compared with that of KK genotype (P0.05) . No significant differences of plasma high-density lipoprotein cholesterol (HDL-C) level were observed among patients with different genotypes. These data suggest that the R219K polymorphism in ABCA1 gene is correlated with CHD, and the ABCA1 gene KK genotype may has a function against atherosclerosis without detectable change of plasma HDL-C level in Chinese Han population.

To investigate the possible association between ZNF230 gene and azoospermia.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.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 (P0.01 and P0.05, 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 (P0.05).ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level.