Polymorphic analysis of 5 Y-SNP loci in Han population of Jinan / 法医学杂志

OBJECTIVE@#To investigate polymorphism distribution of the 5 Y-SNP loci in Jinan Han population, and evaluate their potential in forensic application.@*METHODS@#Genotyping of 5 Y-SNP loci (M89, M9, M122, M134, M95) were executed in the sample of 103 unrelated Chinese male individuals in Jinan Han population by using fragment length discrepant allele specific PCR (FLDAS-PCR).@*RESULTS@#In 5 Y-SNP loci, genetic polymorphism were identified in Jinan Han population, and the ranges of gene diversity(GD) were 0.093 3-0.491 2. Twenty different haplotypes were observed and the haplotypes diversity (HD) was 0.867 9. Six different haplogroups were detected according to international association of Y chromosome nomenclature.@*CONCLUSION@#Five Y-SNP loci and their haplogroups in Jinan Han population are highly polymorphic, which can provide more information for the genetic structure analysis and forensic genetics research in the region.

Preliminary study of multivariable model in predicting response to immunosuppressive therapy in patients with aplastic anemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To evaluate the potential usefulness of a multivariable model in predicting the response to immunosuppressive therapy (IST) in patients with aplastic anemia (AA), and its application to the clinical practice.</p><p><b>METHODS</b>PB T cells subpopulation and BM T cells intracellular IFN-gamma and IL-4 were serially analyzed by flow cytometry (FCM) before and during treatment. HLA-DRB1 * 1501 phenotype was analyzed by PCR-SSP. The predictive potentials of different parameter combinations for clinical responsiveness were statistically assessed.</p><p><b>RESULTS</b>In all evaluated parameters, CD8+ cell intracellular IFN-gamma had the relatively best diagnostic value with sensitivity and specificity of 94.3% and 62.5%, and positive and negative predictive value of 84.6% and 83.3% respectively. Positive CD8+ cell intracellular IFN-gamma plus Tc1/Tc2 < 50 could increase the positive predictive value to 92.3%. A multivariable model consisting of absolute neutrophil count (ANC), BM T cell intracellular IFN-gamma, Tc1/Tc2 ratio and HLA-DRB * 1501 phenotype of the patients was finally established.</p><p><b>CONCLUSION</b>The multivariable model is superior to each of the single parameters in terms of predictive power of IST therapeutic outcome, and its higher accuracy and the clinical application make it potentially useful in practice.</p>

Analysis and clinical significance of ETV6 rearrangement in myelodysplastic syndromes patients / 中华血液学杂志

<p><b>OBJECTIVE</b>To identify the ETV6 gene rearrangement in patients with myelodysplastic syndromes (MDS) and explore its relationship with prognosis and disease stages.</p><p><b>METHODS</b>ETV6 rearrangement in 58 MDS cases were detected by conventional cytogenetics and Split-signal FISH. RT-PCR was used to detect 9p24-12p13 balance translocation with special designed primers ETV6F1/F2 and JAK2R1/R2. The relationship between ETV6 rearrangement and prognosis and disease staging in MDS patients was analyzed.</p><p><b>RESULTS</b>ETV6 rearrangement were found in 4 (6.9%) of 58 cases, among which ETV6/JAK2 fusion was identified by RT-PCR in 1 (1.7%) case. The mean follow-up duration was 12 months. All 4 patients (100%) with rearrangement transformed into acute leukemia, with a median survival time (MS) of 7 months; while 10 patients (17%) in the non-translocation group transformed to acute leukemia, with a MS of 28 months. In addition, all 4 patients (100%) with rearrangement were in advanced stage of MDS( RAEB), while 17 cases (31.5%) in non-rearrangement group were in that stage.</p><p><b>CONCLUSIONS</b>ETV6 rearrangement has higher expression rate (6.9%), and is closely associated with disease stage and prognosis in MDS.</p>