AIM To examine the gene encoding for 5alpha-reductase type 1 in hyperandrogenic women, and assess the association of its eventual mutations or polymorphisms with the development of the hyperandrogenic female pattern. METHODS Sixteen hyperandrogenic women were included in the study. Single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing were performed after polymerase chain reaction amplification of each of the 5 exons of the SRD5A1 gene in both hyperandrogenic and control group (16 participants). RESULTS Sequence analysis identified the existence of many polymorphisms; in codon 24 of exon 1, GGC (Gly) into GAC (Asp); in codon 30 of exon 1, CGG (Arg) into CGC (Arg); in exon 3 codon 169, ACA to ACG (both encoding for threonine); in exon 5, AGA to AGG (both encoding for arginine, codon 260); and T/C polymorphism in intron 2. Polymorphisms were found in both groups. CONCLUSION Polymorphisms of SRD5A1 gene were the same in both hyperandrogenic and healthy women, indicating no significant associations of genetic polymorphisms/variations of SRD5A1 gene with clinical manifestations of hyperandrogenic disorders in women.
AIM We examined combined use in house method and DNA IQ system (Promega) procedure for the extraction DNA from biological trace in order to help the solving some crime cases. METHOD Simple and efficient method for extraction of the DNA from biological trace samples included the well washed trousers and the knife without any visual biological trails (from some one hard criminal case). In this method there were used: centrifuge, microwave oven, shaker, chelex, proteinase K, DNA IQ System (Promega). RESULTS The extraction of DNA could be done within 2.5 hours or over the night. The DNA prepared on this way was good quality and could be used for STR analysis. CONCLUSIONS This combined, simple, and safe method could be used for extraction DNA from samples containing a minute amount of the biological trace.
Objectives: To calculate the frequency of BCR-ABL1 splice variants (e14a2, e13a2 and e1a2) in a group of Bosnian patients with chronic myeloid leukemia (CML) and compare it with the data reported in other populations. Comparisons between cytogenetic and therapy outcomes in patients with BCR-ABL1 e13a2 and e14a2 transcripts was also aim of this study. Methods: Forty six (46) CML patients, hospitalized at the University Clinical Center Tuzla, were subjected to cytogenetic and RTPCR analysis. Results: Out of 46 patients, 33 (72%) patients expressed e14a2, followed by e13a2 seen in 10 (22%) patients. Two patients (4%) displayed both e14a2 and e1a2 forms of BCR-ABL1. One patient (2%) showed e1a2 transcript of BCR-ABL1. In a subgroup of 19 CML patients, treated with Imatinib, patients with e13a2 transcript had higher complete cytogenetic response (CCgR) compared to those with e14a2 transcript. Conclusion: The frequency of BCR-ABL1 e13a2 and e14a2 molecular isoform in patients with CML included in our research is in concordance with other researches. Continuation of the study with a larger number of patients is required to confirm these preliminary observations.
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