A set of seven STR-loci mapping on the male-specific region of the human Y chromosome (DYS19, DYS385, DYS389 I/II, DYS390, DYS391, DYS392, DYS393) were typed by means of two multiplex PCR reactions and capillary electrophoresis in a Romanian population sample of 104 unrelated males. Among the 97 different haplotypes observed, 92 were unique, while 5 occurred more than once. The observed haplotype diversity was 0.989.
RT-MLPA is a sensitive and effective method for the evaluation of the profiles of inflammatory genes in IBD, with potential future applications for diagnosis, phenotypic stratification and targeted therapy.
Background: Allogeneic hematopoietic stem cell (allo-HSC) transplantation is used in the treatment of malignant hematological diseases. An important tool in monitoring post-transplantation evolution is represented by the percentage of donor's blood cells found in recipient's blood, known as chimersim. This is useful in predicting the graft rejection and the risk of disease relapse. In this study, we present the importance of multiplex STR markers in chimerism monitoring of a 8 year old girl diagnosed with acute lymphoblastic leukemia (ALL). Methods: In the pre-transplant stage, saliva on buccal swabs and blood samples in EDTA were collected from the donor and recipient and used as reference samples. The DNA extraction from saliva and blood samples was done using the Pure Link Genomic DNA kit (Invitrogen, USA). For the DNA quantification, the Quantifiler Human DNA kit (Applied Biosystems, USA) was used on an ABI 7500 Real-time PCR system (Applied Biosystems, USA). Amplification of the STR markers was performed using the AmpFLSTR NGM SElect kit (Applied Biosystems, USA) on a ProFlex PCR System. The PCR products were separated and detected on an ABI 3500 Genetic Analyzer (Applied Biosytems, USA). Results: One month post-transplantation of HSC, a mixed chimerism (MC) containing 38% of donor's cells was obtained from a bone marrow aspiration sample. On the 45th day, a new transplantation was performed. On the 15th day after 2nd transplantation, a MC with 91% donor's cells was obtained. On the 21st day after the 2nd transplantation, a complete chimerism (CC) with 100% donor's cells was obtained. Conclusions: Chimerism monitoring is useful in identifying those patients in risk for relapse or graft rejection.
The recovery of genetic information from highly degraded or minute amount of biological samples needs special approaches together with conventional STR multiplex assays. In this respect, the "mini-STR" technology is considered to be remarkable for its capacity to decrease the rate of failures and inconclusive results in forensic casework. By using miniSTRs, the PCR efficiency is significantly improved as shorter PCR amplicons are generated with STR primers located closer to the repeat regions. In this article we aimed to present several practical considerations regarding the miniSTR genotyping for challenging forensic samples. Looking for a robust protocol to re-investigate some of our cases with inconclusive or no typing results we studied the efficiency of a miniSTR approach. We report by comparison our results obtained with a commercial miniSTR multiplex assay on samples previously tested with two different 16 STR commercial kits. Our conclusion is definitely in favor of including in the routine protocol the miniSTR assay as it was able to improve the results, providing better or even complete DNA profiles for the difficult samples where the conventional STR kits failed.
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