KIR3DL1 and HLA-Bw4 Interaction Showed a Favorable Role in Patients with Myelodysplastic Syndromes in Chinese Southern Han.

BACKGROUND: The association studies of killer cell immunoglobulin-like receptors (KIRs) with the occurrence of myelodysplastic syndromes (MDS) are limited worldwide; this study investigated the genetic risk/protective factors of MDS in KIR and human leucocyte antigen (HLA) systems to gain a better understanding of the role played by KIR and their cognate HLA ligands in MDS pathogenesis. METHODS: We genotyped a total number of 77 patients with MDS from Chinese Southern Han and 745 healthy controls for the KIR loci and HLA class I. The carrier frequencies of KIR genes, KIR genotypes, class I HLA ligands, and KIR-HLA combinations were calculated by direct counting. The effect of individual KIR genes and HLA ligands on MDS risk was evaluated by logistic regression analyses using SAS 9.2 software. RESULTS: We found that neither the KIR genes nor the KIR genotypes were associated with the occurrence of MDS. However, we observed that the frequencies for the strong inhibitory ligand HLA-Bw4 as well as KIR3DL1-HLA-Bw4 combination were significantly higher in healthy controls than those in the MDS patient group, respectively (73.42% vs. 62.34%, P = 0.038; 70.87% vs. 59.74%, P = 0.043). CONCLUSION: Our results showed that HLA-Bw4 ligand and KIR3DL1-HLA-Bw4 combination could confer a protective effect against MDS in Chinese Southern Han.

[Establishment of real-time fluorescent quantitative polymerase chain reaction for rapid detection of M244V mutation in kinase domain of BCR-ABL fusion gene].

The present study was aimed to establish a high sensitive and specific method for detecting M244V mutation in kinase domain of BCR-ABL(fusion gene) by using real-time quantitative PCR technology. The specific primer of the mutational site was designed, and then the PCR reaction system and condition were optimized to establish the new real-time PCR method for detecting M244V mutation. The results showed that a method of detecting M244V mutation has been successfully established. The detection results indicated that this method possessed high sensitivity, specificity and accuracy. It is concluded that the method based on fluorescent quantitative polymerase chain reaction for detecting M244V mutation can be used to detect the M244V mutation in CML patients successfully.