Assuntos
Sistemas de Transporte de Aminoácidos Neutros/imunologia , Eritrócitos/imunologia , Sistema do Grupo Sanguíneo de Kell/genética , Neuroacantocitose/genética , Povo Asiático/genética , Doadores de Sangue , Eritrócitos/metabolismo , Éxons/genética , Humanos , Sistema do Grupo Sanguíneo de Kell/imunologia , Masculino , Proteínas de Membrana/genética , Mutação , Neuroacantocitose/diagnóstico , Neuroacantocitose/imunologia , Fenótipo , Análise de Sequência de DNA/métodos , Adulto JovemAssuntos
Substituição de Aminoácidos/genética , Sistema do Grupo Sanguíneo de Kell/metabolismo , Glicoproteínas de Membrana/genética , Metaloendopeptidases/genética , Polimorfismo de Nucleotídeo Único , Transfusão de Eritrócitos , Feminino , Glicina/genética , Homozigoto , Humanos , Sistema do Grupo Sanguíneo de Kell/genética , Sistema do Grupo Sanguíneo de Kell/imunologia , Mutação de Sentido Incorreto , Fenótipo , Transplantados , Valina/genética , População Branca/genéticaRESUMO
BACKGROUND: The Jr(a-) phenotype is rare in European and North American populations but is not so rare in Japanese and other Asian populations. Recently, two groups have established the connection between the Jr(a-) phenotype and the ATP-binding cassette, member G2 (ABCG2) gene and concluded that ABCG2-null alleles encode the Jr(a-) phenotype. In Japanese Red Cross Blood Centers, the Jr(a-) phenotype is found with a prevalence of 0.05% among blood donors, and we applied DNA-based genotyping to investigate the molecular basis of the Jr(a-) phenotype in Japan, in addition to serologic typing. STUDY DESIGN AND METHODS: Purified genomic DNA extracts of Japanese donor samples [500 Jr(a+) and 85 Jr(a-) phenotypes] were amplified using specific amplification primers for the c.376C>T mutation, which is the most common mutation in the Asian JRnull allele. Polymerase chain reaction products were examined by high-resolution melt techniques and DNA sequence analyses. RESULTS: Seventy-nine of 85 Jr(a-) samples were homozygous for the single-nucleotide polymorphism c.376C>T (Gln126Stop) change. In other samples, two novel null alleles were detected: c.2T>C and c.421C>A: c.1515delC. CONCLUSION: In this study, more than 90% of the Japanese Jr(a-) phenotypes had c.376C>T (Gln126Stop) nucleotide change. In the other Jr(a-), a new mutation (c.2T>C) in the start codon encoding Thr instead of Met, c.1515delC encoding Ala505AlafsStop and heterozygous for c.337C/T and c.736C/T were detected. DNA-based genotyping is accurate and useful for Jr(a-) donor typing.
Assuntos
Transportadores de Cassetes de Ligação de ATP/sangue , Transportadores de Cassetes de Ligação de ATP/genética , Povo Asiático/genética , Doadores de Sangue , Proteínas de Neoplasias/sangue , Proteínas de Neoplasias/genética , Polimorfismo de Nucleotídeo Único , Membro 2 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Alelos , Genótipo , Heterozigoto , Humanos , FenótipoRESUMO
AIM: The purpose of this study is to explore whether the types and quality of breakfast could influence energy levels (blood glucose levels) and propose ideal breakfast models. BACKGROUND: It is widely considered that a regular breakfast provides a number of health benefits; however, there is no general scientific agreement regarding what kind of food should be consumed. Evidence supports the importance of balancing blood glucose levels by low glycaemic index/load (L-GI/L) and increased protein diets, in particular in metabolic disorders, which non-alcoholic fatty liver disease (NAFLD) has a close relation to. PATIENTS AND METHODS: This study was conducted by using a valid and standard questionnaire at the University of Worcester to evaluate the breakfast and dietary habits and energy levels. The Kruskal-Wallis test was used for statistical analysis. RESULTS: No significant differences were found either between breakfast consumption, energy levels, types of snack and amount of caffeine intake in the morning or between types of breakfast, energy levels, types of snack, and amount of caffeine intake in the morning. However, potential differences in energy levels were found across the groups of breakfast types: glycaemia (GL) (p=.057) and protein intake (p=.056). CONCLUSION: The types and quality of breakfast would be key as regular breakfast consumption alone did not show adequate health benefits. Lower GL foods and higher protein intake at breakfast were found to be associated with higher energy levels. It is therefore recommended that breakfast foods should be low in GL and high in protein. These changes may lead to better health status and prevention of disease, especially metabolic and liver disorders, in the long term.
