Methods We collected clinical and laboratory data from periodic fever patients followed at our center from the beginning of 2006 to the end of 2012. Results of genetic testing for MEFV gene mutations were also collected. Genetic testing was performed in Genetic laboratory of University Children’s Hospital Ljubljana. All 10 exons and exon/ intron regions of MEFV gene were directly sequenced with...

BACKGROUND The wide variety of real-time amplification platforms currently available has determined that standardisation of DNA measurements is a fundamental aspect involved in the comparability of results. Statistical analysis of the data arising from three different real-time platforms was conducted in order to assess inter-platform repeatability. On three consecutive days two PCR reaction mi...

BACKGROUND Characterization of fusion gene transcripts in leukemia that result from chromosome translocations provides valuable information regarding appropriate treatment and prognosis. However, screening for multiple fusion gene transcripts is difficult with conventional PCR and state-of-the-art real-time PCR and high-density microarrays. METHODS We developed a multiplex reverse transcripti...

Sequencing. Genomic DNA was extracted from peripheral blood using standard procedures and its quality was monitored using a Nanodrop spectrophotometer. DNA was amplified for CDKN2A, CDK4, MC1R, TP53 and MITF as described previously [13, S1]. PCR products were subjected to automatic sequencing by ABI PRISM 310 genetic analyzer (Applied Biosystems). Microsatellite analysis. The primers used for m...

Aspirin should be continued indefinitely in patients after interventional therapy, but 10% to 40% of patients experience recurrent vascular events despite adequate aspirin therapy, a condition known as aspirin resistance (AR). Xuefuzhuyu oral liquid, derived from the classic recipe Xuefuzhuyu decoction, has been well documented to inhibit platelet aggregation and to improve hemorheology. The ai...

Invasive fungal disease often plays an important role in the morbidity and mortality of immunocompromised patients. The poor sensitivity of current fungal blood culture and histological practices has led to the development of highly sensitive and specific molecular techniques, such as the PCR. Sequence variability of the internal transcribed spacer 2 (ITS2) region of fungi is potentially useful...

AIM To identify the genotype of two Indians with male pseudohermaphroditism. METHODS Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of pri...

This paper describes results of a population study of two X-linked STR microsatellite markers: DXS7108 and DXS1196. 298 samples of DNA of unrelated persons (male and female) from the Northern part of Poland were analyzed. DNA was isolated using a non-enzymatic method. After amplification PCR products were separated by means of capillary electrophoresis using the ABI PRISM 310 Genetic Analyzer. ...

This study was carried out to evaluate the loss of heterozygosity (LOH) in the 8q12-q24.1 chromosomal region, containing RAD54B gene in breast cancer. Polymorphic markers D8S539 and D8S543 were used. For alleles frequency estimation 100 primary breast cancers were tested. DNA was isolated from paraffin-embedded tissues and their matched blood samples. Polymerase chain reaction amplified product...

We have developed an automated purification method for dye-terminator-based DNA sequencing products using a magnetic bead approach. This 384-well protocol generates sequence fragments that are essentially free of template DNA, salt, and excess dye-terminator products. In comparison with traditional ethanol precipitation protocols, this method uses no centrifugation, is rapid, completely automat...