Journal des biomarqueurs moléculaires et du diagnostic

This study describes the use of Cardio Vascular Disease (CVD) Strip Assay which based on Polymerase Chain Reaction Reverse Hybridization Technique to study the prevalence of Apo B R3500Q mutation and Apo E genotypes in Taif city Saudi Arabian population. Among 200 unrelated healthy subjects residing in Taif city 5,600 feet above sea level complete absence of Apo B R3500Q mutation was observed. Among six different Apo E genotypes, five genotypes were detected (E3/E3, E4/E4, E2/E3, E2/E4 and E3/E4) with prevalence% (63, 2.5, 8.5,1 and 25) respectively. The allelic frequencies of Apo E alleles were 0.79 for E3, 0.15 for E4 and 0.048 for E2.Obtained data concluded that, this is the first report about Apo B R3500Q mutation in Saudi Arabia and the absence of it confirmed that this mutation has not reached Saudi Arabia from central Europe which is the common origin of this mutation. Among Apo E genotypes, only E2/E2 genotype was absent while another E2/E3 and E2/E4 genotypes were detected in Taif Saudi population.

Approximately 1% of the Caucasians shows resistance to HIV-1 infection conditioned by 32bp deletion in CCR5 gene. Homozygotes are almost totally resistant, but heterozygotes have delay the progression to AIDS. Due to the constantly increase of HIV infection in Poland we examined the incidence of del32 allele in two cohorts (south-western and south-eastern region of country) that remarkably differs in the incidence of HIV. Among the individuals from the south-western region, we detected 7 homozygotes (2.6%), in compare with individuals from the south-eastern area of Poland, where we found 1 homozygote (0.4%). The prevalence of CCR5del32 allele in the group from the southwestern region was estimated at 11.6%, while in the group from the south-eastern region was assessed at 9.7%. Differences in the prevalence of genotypes and alleles between regions were not statistically significant. Our results were discussed in relation to the incidence of HIV infection in Poland. We conclude that occurence of CCR5del32 biomarker does not reflect the incidence of HIV in the examined regions.

Glutamate decarboxylase (GAD) antibody has been found in patients with recent-onset insulin dependent diabetes mellitus (IDDM). Several analytical methods are described for detection and quantitation of anti-GAD antibodies whereas the inhibition of the enzyme activity by anti-enzyme antibody is given little attention. In this study a quenching fluorimetric method based on changes of fluorescence intensities upon addition antiserum into the enzyme/substrate medium is described. The activity of the purified rat brain GAD was measured by both manometeric and fluorimeteric methods in the presence of serum samples from IDDM patients (n=21) or non diabetic subjects (n=21). Significant differences between the patients and control groups were observed using both methods. However, high degree of fluorescence sensitivity of fluorimetric technique allows for less error, less time and satisfactory useful and economical for screening of IDDM in the large populations.

Background: Molecular tumor profiling has potential importance in identifying the tissue of origin in patients with cancer of unknown primary (CUP). We retrospectively performed the Tissue of Origin test, an FDA-cleared commercially available gene microarray assay, on biopsy specimens from patients with CUP. Assay results were correlated with clinical and pathologic features, and with previous results using the Veridex 10-gene CUP assay, a molecular RT-PCR assay designed to detect 6 primary sites.

Methods: Archival formalin-fixed, paraffin-embedded biopsy specimens from 48 patients with CUP were tested. The assay results were reported without incorporation of clinicopathologic information except biopsy site and patient gender. The assay results were correlated with clinicopathologic information, treatment results, and with results of the previously performed Veridex assay.

Results: The Tissue of Origin test was successfully performed in 45 tumor specimens. In 43 of 45 assays (96%), a specific tissue of origin was predicted. The most commonly identified tissues of origin included: lung (11), pancreas (6), sarcoma (6), ovary (5), and colon (4). Most diagnoses were compatible with the clinical features, IHC staining, and response to treatment. The finding of 6 sarcomas was unusual in this patient population and was suggested by routine pathology in only 1 patient. The Tissue of Origin test provided predictions in a higher percentage of patients than did the Veridex CUP assay (96% versus 53%). However, concordance between assay results was relatively low. Conclusions: The Tissue of Origin test provided predictions of the primary site in 96% of patients with CUP. Predictions were generally consistent with clinicopathologic features. Agreement between the Tissue of Origin test and the Veridex CUP assay was relatively low, possibly related to the limited number of genes assessed by the Veridex CUP assay. Additional trials are necessary to confirm the value of these assays in patient management.