Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.

Colombia has a high prevalence of mucopolysaccharidosis (MPS) type IVA. Nevertheless, data regarding the mutation spectrum for MPS IVA in this population have not been completely characterized. Forty-seven families and 53 patients from seven different Colombian regions were tested for MPS IVA mutations. We compared the sequences with the N-acetylgalactosamine-6-sulfatase (GALNS) reference sequence NM_000512.4, and gene variants were reported. Bioinformatics analysis was performed using SWISS-MODEL. The mutant proteins were generated by homology from the wild-type GALNS 4FDJ template obtained from the PDB database, and visualization was performed using Swiss-PDBViewer and UCSF Chimera. The predictive analysis was run using different bioinformatic tools, and the deleterious annotation of genetic variants was performed using a neural network. We found that 79% and 21% of the cohort was homozygous and compound heterozygous, respectively. The most frequent mutation observed was p.Gly301Cys (78.3% of alleles), followed by p.Arg386Cys (10.4% of alleles). A novel mutation (p.Phe72Ile) was described and classified in silico as a pathogenic variant. This study reveals the mutation spectrum of MPS IVA in Colombia. The high prevalence of the p.Gly301Cys mutation suggests a founder effect of this variant in the Colombian population that causes diseases in the Andean region (via migration). These data can facilitate genetic counseling, prenatal diagnosis, and the design of therapeutic interventions.

Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry

Abstract Neonatal screening in Colombia has been carried out since 2000. The problem that most concerns is the absence of expanded screening. To stablish reference values for amino acids and acylcarnitines, in order to provide information to guide the implementation of expanded screening. Samples collected on Whatman 903 filter paper from 10284 newborns were processed by Tandem Mass Spectrometry System (Waters - Perkin Elmer), and the NeoBase™ non-derivatized MS/MS kit (PerkinElmer), which contains controls for 11 amino acids, and 31 acylcarnitine species. For each analyte the upper limit was set above the 99th percentile, while the lower limit was set below the 1st percentile. Comparison of full-term newborn amino acid concentrations with premature ones showed no significant differences in three of them: Glycine p-0.99574, Ornithine p=0.35274, Phenylalanine p=0.13499, neither in levels of 11 of the 31 acylcarnitines. Comparison of analyte concentrations in this study with previous reports showed significant differences for all amino acids and acylcarnitines (<0.05). Experience was gained in the pre-analytic stage of expanded screening and reference values were established, for the implementation of neonatal screening program in the country.

Population data on 15 autosomal STRs in a sample from Colombia.

We present population genetic data of 15 STRs (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, PENTA D, PENTA E, TH01, TPOX and VWA) obtained from a sample of 617 unrelated individuals from Colombia. Deviations from Hardy-Weinberg equilibrium were assessed and allele frequencies and parameters of forensic interest for each STR were calculated. The combined power of exclusion (PE) and the combined power of discrimination (PD) for the 15 tested STR loci were 0, 99999895 and more than 0, 9999999, respectively. The combined MP value was 1 in 1, 07888 x 10(-17). Population comparisons between our sample and neighbouring populations from Latin America were carried out. Significant differences in above six markers were observed between our sample and two populations from Rio de Janeiro.

The genetic male component of two South-Western Colombian populations.

In the recent history of Colombia, two factors have contributed to change the population structure, the Spanish conquest and the slave trading promoted principally by Portugal, England and Spain. As a consequence the native population of Colombia has been reduced and mixed with the European and African arriving groups. To assess the male ancestry of the Cauca population, we have examined the frequency of the major Y-chromosome lineages by typing 30 Y-SNPs in two populations from this region: 105 Afro-Colombian individuals and 110 Caucasian-Mestizo individuals. Among the 33 haplogroups defined with the SNPs analysed, 15 haplogroups were detected, 10 of them being shared by both populations. In order to investigate how the level of admixture is, and to compare the genetic background with other neighbour populations, other South American samples previously published were used for comparative analysis.

Autosomal microsatellite data from Northwestern Colombia.

Allele frequencies and some forensic parameters for 12 autosomal microsatellites (CSF1PO, TPOX, THO1, VWA, D16S539, D7S820, D13S317, D5S818, F13A1, FESFPS, F13B, LPL) were estimated from three departments from Northwestern Colombia. The total number of samples analysed was 1045 individuals. Comparative analysis among the three studied departments and with other published Colombian populations were also performed and discussed.

Nineteen autosomal microsatellite data from Antioquia (Colombia).

Allele frequencies for 19 autosomal STRs (F13A01, FESFPS, F13B, LPL, D5S818, D7S820, THO1, TPOX, VWA31, CSF1P0, D16S539, D13S317, D3S1358, D8S1179, FGA, PENTA D, PENTA E, D21S11, D18S51) were estimated from a sample between 364 and 400 unrelated individuals living in the northern department of Antioquia.

Genetic data on eight STRs (D5S818, D7S820, F13B, LPL, TH01, TPOX, VWA31, CSF1PO) from a Colombian population.

Allele frequencies for eight short tandem repeats (STRs) (D5S818, D7S820, F13B, LPL, TH01, TPOX, VWA31 and CSF1PO) were estimated from a sample of 155 unrelated individuals living in different departments of the southwest of Colombia, Caquetá, Cauca, Huila, Nariño, Putumayo and Cauca Valley.