RESUMEN
We investigated the ABO genotypes and heterogeneity of the O alleles in Plasmodium falciparum-infected and non-infected individuals from the Brazilian Amazon region. Sample collection took place from May 2003 to August 2005, from P. falciparum malaria patients from four endemic regions of the Brazilian Amazon. The control group consisted of donors from four blood banks in the same areas. DNA was extracted using the Easy-DNA(TM) extraction kit. ABO genotyping was performed using PCR/RFLP. There was a high frequency of ABO*O01O01. ABO*AO01 was the second most frequent genotype, and the third most frequent genotype was ABO*BO01. There were low frequencies of the ABO*O01O02, ABO*AA, ABO*AB, ABO*BB, and ABO*O02O02 genotypes. We analyzed the alleles of the O phenotype; the O(1variant) allele was the most frequent, both in malaria and non-malaria groups; consequently, the homozygous genotype O(1)(v)O(1)(v) was the most frequently observed. There was no evidence of the homozygous O(2) allele. Significant differences were not detected in the frequency of individuals with the various alleles in the comparison of the malaria patients and the general population (blood donors).
Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Donantes de Sangre , Malaria Falciparum/genética , Polimorfismo Genético/genética , Adolescente , Adulto , Anciano , Brasil , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción/genética , Adulto JovenAsunto(s)
Infecciones por Alphavirus/epidemiología , Alphavirus/aislamiento & purificación , Infecciones por Arbovirus/epidemiología , Arbovirus/aislamiento & purificación , Donantes de Sangre , Dengue/epidemiología , Brotes de Enfermedades , Infecciones por Flavivirus/epidemiología , Flavivirus/aislamiento & purificación , Viremia/epidemiología , Infecciones por Alphavirus/sangre , Infecciones por Alphavirus/virología , Infecciones por Arbovirus/sangre , Infecciones por Arbovirus/virología , Brasil/epidemiología , Portador Sano/sangre , Portador Sano/epidemiología , Portador Sano/virología , Dengue/sangre , Dengue/virología , Virus del Dengue/aislamiento & purificación , Enfermedades Endémicas , Infecciones por Flavivirus/sangre , Infecciones por Flavivirus/virología , Humanos , Reacción en Cadena de la Polimerasa/métodos , Población Urbana , Viremia/sangreRESUMEN
Malaria is an endemic parasitosis and its causitive agent, Plasmodium, has a metabolism linked to iron supply. HFE is a gene with the polymorphisms C282Y and H63D, which are associated with a progressive iron accumulation in the organism leading to a disease called hereditary hemochromatosis. The aim of the present study was to determine the allelic and genotypic frequencies of the HFE gene polymorphisms in malaria patients and blood donors from the Brazilian Amazon region. We screened 400 blood donors and 400 malaria patients for the HFE C282Y and H63D polymorphisms from four states of the Brazilian Amazon region by polymerase chain reaction and restriction fragment length polymorphism analysis. We did not find any C282Y homozygous individuals, and the only five heterozygous individuals detected were from Pará State. The most frequent genotype in the North region of Brazil was the H63D heterozygote, in both study groups. Our results contribute to the concept that the Brazilian Amazon region should not be regarded as a single entity in South America. These polymorphisms did not influence the symptoms of malaria in the population studied, as neither severe signs nor high parasitemia were observed. Therefore, different hereditary hemochromatosis diagnostic and control measures must be developed and applied within its diverse locations. Investigations are currently being carried out in our laboratory in order to determine the importance of the coexistence of hereditary hemochromatosis in patients affected by parasitic diseases, such as malaria.
Asunto(s)
Frecuencia de los Genes , Malaria/genética , Polimorfismo Genético , Adulto , Alelos , Animales , Donantes de Sangre , Brasil/epidemiología , Estudios de Casos y Controles , Enfermedades Endémicas , Femenino , Heterocigoto , Humanos , Malaria/sangre , Malaria/epidemiología , Malaria/parasitología , Masculino , Plasmodium falciparum/parasitología , Plasmodium vivax/parasitología , PrevalenciaRESUMEN
Malaria is an endemic parasitosis and its causitive agent, Plasmodium, has a metabolism linked to iron supply. HFE is a gene with the polymorphisms C282Y and H63D, which are associated with a progressive iron accumulation in the organism leading to a disease called hereditary hemochromatosis. The aim of the present study was to determine the allelic and genotypic frequencies of the HFE gene polymorphisms in malaria patients and blood donors from the Brazilian Amazon region. We screened 400 blood donors and 400 malaria patients for the HFE C282Y and H63D polymorphisms from four states of the Brazilian Amazon region by polymerase chain reaction and restriction fragment length polymorphism analysis. We did not find any C282Y homozygous individuals, and the only five heterozygous individuals detected were from Pará State. The most frequent genotype in the North region of Brazil was the H63D heterozygote, in both study groups. Our results contribute to the concept that the Brazilian Amazon region should not be regarded as a single entity in South America. These polymorphisms did not influence the symptoms of malaria in the population studied, as neither severe signs nor high parasitemia were observed. Therefore, different hereditary hemochromatosis diagnostic and control measures must be developed and applied within its diverse locations. Investigations are currently being carried out in our laboratory in order to determine the importance of the coexistence of hereditary hemochromatosis in patients affected by parasitic diseases, such as malaria.
Asunto(s)
Humanos , Animales , Femenino , Adulto , Frecuencia de los Genes , Malaria/genética , Polimorfismo Genético , Alelos , Brasil/epidemiología , Estudios de Casos y Controles , Enfermedades Endémicas , Heterocigoto , Malaria/epidemiología , Malaria/parasitología , Malaria/sangre , Prevalencia , Plasmodium falciparum/parasitología , Plasmodium vivax/parasitologíaRESUMEN
We describe a heterozygous case of Hb I-Philadelphia [alpha 16 (A14) LYS-->GLU] in a blood donor from the Acre State Blood Bank, in the Brazilian Amazon region. We confirmed the mutation by electrophoretic and chromatographic methods and by DNA sequencing. A literature search showed that this is the first description of this alpha globin mutant in a Brazilian Caucasian group. We also emphasize the importance of the hemoglobin study in blood donors for the purpose of the genetic counseling and quality assurance of the blood to be transfused. Screening tests for hemoglobin mutants are also important for gathering anthropological information about the Brazilian population.
Asunto(s)
Hemoglobinas Anormales/genética , Heterocigoto , Mutación/genética , Adulto , Donantes de Sangre , Brasil , Cromatografía Líquida de Alta Presión , Electroforesis , Hemoglobinas Anormales/análisis , Humanos , Masculino , Análisis de Secuencia de ADNRESUMEN
We describe a heterozygous case of Hb I-Philadelphia [alpha 16 (A14) LYS-->GLU] in a blood donor from the Acre State Blood Bank, in the Brazilian Amazon region. We confirmed the mutation by electrophoretic and chromatographic methods and by DNA sequencing. A literature search showed that this is the first description of this alpha globin mutant in a Brazilian Caucasian group. We also emphasize the importance of the hemoglobin study in blood donors for the purpose of the genetic counseling and quality assurance of the blood to be transfused. Screening tests for hemoglobin mutants are also important for gathering anthropological information about the Brazilian population.
Asunto(s)
Humanos , Masculino , Adulto , Heterocigoto , Hemoglobinas Anormales/genética , Mutación/genética , Donantes de Sangre , Brasil , Cromatografía Líquida de Alta Presión , Electroforesis , Hemoglobinas Anormales/análisis , Análisis de Secuencia de ADNRESUMEN
We have identified chromosome regions that may be sites of genes activated as a result of chromosomal rearrangements observed in 61 of the 86 skin tumors referenced in the literature. The data showed that most of the breakpoints were distributed throughout the genome and some tended to cluster. Highest frequencies of breakpoints were observed in chromosomes with high relative length, except chromosomes 14 and 15 that were often affected in malignant tumors, despite their size. Our work provides a starting point for more detailed studies that may allow identification of these genes as important keys in the development and progression of skin cancers.