RESUMEN
Unusual and discrepant ABO phenotypes are often due to genetic variants that lead to altered levels or activity of ABO transferases and consequently to altered expression of ABO antigens. This report describes eight genetic alterations found in 15 cases with reduced or undetectable expression of ABO antigens. Forward and reverse ABO grouping was performed by standard gel or tube methods. Adsorption-heat elution and saliva testing for H and A substances followed the AABB technical manual procedures. Genomic DNA extracted from whole blood was PCR-amplified to cover the entire ABO coding sequence, splice junctions, proximal promoter, and intron 1 enhancer. Amplification products were sequenced by next-generation or Sanger dideoxy methods, either directly or after cloning into a bacterial plasmid vector. Eight unreported alleles were found in the 15 cases analyzed. Alleles ABO*A(28+1C) and ABO*A(29-5G) harbor variants that alter the consensus sequence at the intron 1 donor and acceptor splice sites, respectively. The other alleles harbor variants that alter the consensus sequence at transcription factor-binding sites in the intron 1 enhancer: specifically, ABO*A(28+5792T), ABO*A(28+5859A), and ABO*A(28+5860G) at GATA-1 sites; ABO*B(28+5877T) and ABO*B(28+5878G) at a RUNX1 site; and ABO*A(28+5843A) at or near a C/EBP site. Molecular and serologic characterization of ABO alleles can help in their future identification and in the resolution of discrepancies.Unusual and discrepant ABO phenotypes are often due to genetic variants that lead to altered levels or activity of ABO transferases and consequently to altered expression of ABO antigens. This report describes eight genetic alterations found in 15 cases with reduced or undetectable expression of ABO antigens. Forward and reverse ABO grouping was performed by standard gel or tube methods. Adsorption-heat elution and saliva testing for H and A substances followed the AABB technical manual procedures. Genomic DNA extracted from whole blood was PCR-amplified to cover the entire ABO coding sequence, splice junctions, proximal promoter, and intron 1 enhancer. Amplification products were sequenced by next-generation or Sanger dideoxy methods, either directly or after cloning into a bacterial plasmid vector. Eight unreported alleles were found in the 15 cases analyzed. Alleles ABO*A(28+1C) and ABO*A(295G) harbor variants that alter the consensus sequence at the intron 1 donor and acceptor splice sites, respectively. The other alleles harbor variants that alter the consensus sequence at transcription factorbinding sites in the intron 1 enhancer: specifically, ABO*A(28+5792T), ABO*A(28+5859A), and ABO*A(28+5860G) at GATA-1 sites; ABO*B(28+5877T) and ABO*B(28+5878G) at a RUNX1 site; and ABO*A(28+5843A) at or near a C/EBP site. Molecular and serologic characterization of ABO alleles can help in their future identification and in the resolution of discrepancies.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Sistema del Grupo Sanguíneo ABO/genética , Alelos , Humanos , Intrones , Mutación , FenotipoRESUMEN
Some new cadmium(II) Schiff base complexes CdLX2 (where X=Cl(-), Br(-), I(-), SCN(-) and N3(-) and L=N,N-bis((E)-3-(4-(dimethylamino)phenyl)allylidene)benzene-1,2-diamine) were synthesized and characterized by elemental analysis, FT-IR, UV-visible, (1)HNMR spectra, and conductivity measurements. Moreover, the structure of the CdLI2 was determined by single crystal X-ray crystallography. CdLI2 crystallizes in a triclinic system with space group P 1Ì . The molecular structure shows distorted tetrahedral coordination geometry. The CH....π and π-π stacking interactions connect the molecules to a supramolecular network. The thermal properties of the compounds were investigated from the room temperature to 800 °C with a heating rate of 10 °C/min and decomposition activation parameters were evaluated from the TG/DTG plots. Antibacterial/antifungal activities of the compounds were screened by the disk diffusion method against the Gram-negative bacteria Escherichia coli and Pseudomonas aeruginosa, the Gram-positive bacteria Staphylococcus aureus and Bacillus subtilis and the fungi strain Aspergillus niger and Candida albicans. The antimicrobial activities were determined for all compounds and the complexation was found to enhance the inhibitory activity. Finally, the DNA cleavage potential of the compounds was investigated by agarose gel electrophoresis method.
Asunto(s)
Antiinfecciosos/farmacología , ADN/efectos de los fármacos , Bases de Schiff/química , Cristalografía por Rayos X , Hidrólisis , Pruebas de Sensibilidad Microbiana , Espectroscopía de Protones por Resonancia MagnéticaRESUMEN
Two new cadmium(II) complexes with the formula of CdL2(NCS)2 and CdL2(N3)2 (in which L is 2,2-dimethyl-N,N'-bis-(3-phenyl-allylidene)-propane-1,3-diamine) have been synthesized and characterized by elemental analysis, molar conductivity measurements, FT/IR, UV-Visible, (1)H and (13)C NMR spectra and X-ray studies. The crystal structure analysis of CdL2(NCS)2 indicated that it crystallizes in orthorhombic system with space group of Pbca. Two Schiff base ligands are bonded to cadmium(II) ion as N2-donor chelate. Coordination geometry around the cadmium ion was found to be partially distorted octahedron. The Cd-Nimine bond distances are found in the range of 2.363(2)-2.427(2)Å while the Cd-Nisothiocyanate bond distances are 2.287(2)Å and 2.310(2)Å. The existence of C-Hâ¯π and C-Hâ¯S interactions in the CdL2(NCS)2 crystal leads to a supramolecular structure in its network. Then cadmium complexes were screened in vitro for their antibacterial and antifungal activities against two Gram-negative and two Gram-positive bacteria and also against Candida albicans as a fungus. Moreover, the compounds were subjected for DNA-cleavage potential by gel electrophoresis method. Finally thermo-gravimetric analysis of the complexes was applied for thermal behavior studies and then some thermo-kinetics activation parameters were evaluated.