BACKGROUND & OBJECTIVES CNDP1 gene, present on chromosome 18q22.3-23, encodes carnosinase, the rate-limiting enzyme in hydrolysis of carnosine to ß-alanine and L-histidine. Linkage of CTG trinucleotide (leucine) repeat polymorphism in CNDP1 gene with diabetic nephropathy has been observed in several populations. However, this association is conflicting and population-dependent. We investigated ...

BACKGROUND Factor V leiden and the -G20210A variant of prothrombin gene are associated to a higher risk of deep venous thrombosis. AIM To assess the frequency of factor V Leiden (G1691A) and prothrombin -G20210A alleles in patients with deep venous thrombosis (DVT) and in the general population from Spain. MATERIAL AND METHODS Factor V Leiden (g1691a) and prothrombin-g20210a alleles were ge...

OBJECTIVE To determine if the mutations in the CARD15/NOD2 gene predisposing to Crohn's disease (CD) contribute also to the genetic susceptibility to rheumatoid arthritis (RA). METHODS The frequencies of the three commonest mutations of CARD15/NOD2 predisposing to CD (2104C > T, 2722G>C and 3020insC) were determined in 210 RA patients and 227 controls. RESULTS Allelic frequencies of the CAR...

Neurofibromatosis type 1 (NF1) patients are more likely to have vitamin D deficiency when compared to the general population. This study aimed to determine the levels of 25-OH-vitamin D [25(OH)D] in individuals with NF1 and disease-unaffected controls and analyze FokI and BsmI VDR gene polymorphisms in a case and in a control group. Vitamin D levels were compared between a group of 45 NF1 patie...

Robust estimation of allele frequencies in pools of DNA has the potential to reduce genotyping costs and/or increase the number of individuals contributing to a study where hundreds of thousands of genetic markers need to be genotyped in very large populations sample sets, such as genome wide association studies. In order to make accurate allele frequency estimations from pooled samples a corre...

β-lactoglobulin is the major whey protein in ruminant milk. In sheep, three genetic variants have been found (A, B and C) which differ from each other by a single base substitution within exon II of the gene. Various reports have indicated that the B variant is associated with higher milk yields. In this study, we have assessed the genotypic frequencies of both A and B variants in samples from ...

We investigated the polymorphic tetranucleotide repeat (TTTA)n located in the fourth intron of the CYP19 gene in two Brazilian populations. The frequencies of the five common alleles (A) in Euroand Afro-Brazilians were, respectively: seven repeats (A5), 0.586 and 0.80; eight repeats (A4), 0.092 and 0.06; nine repeats (A3), 0.014 and 0.01; eleven repeats (A2), 0.284 and 0.09; twelve repeats (A1)...

Estimation of short tandem repeat (STR) multilocus genotype frequencies for the identification of individuals and estimation of allele frequencies for parentage assignment both depend on (a) testing a lot of loci, (b) high levels of polymorphism at each locus tested, and (c) independence among alleles. Independence is critical, because the estimation of multilocus genotype and gamete frequencie...