RESUMO
We describe the identification of a new HLA-DRB5 allele found in two members of a British Caucasoid family. Genomic analysis of exon 2 revealed a novel sequence. The name DRB5*0112 has been assigned to this allele by the WHO Nomenclature Committee, and the EMBL sequence database accession number for this is AJ427352. DRB5*0112 has several unique sequence features when compared to other DRB5 alleles, and comparison with all known DRB1/3/4/5 alleles indicates this to have arisen as a result of intraexonic recombination between a DRB5-containing haplotype and one carrying DRB1*09.
Assuntos
Alelos , Antígenos HLA-DR/genética , Sequência de Aminoácidos , Éxons , Cadeias HLA-DRB5 , Humanos , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase/métodos , Alinhamento de Sequência , Homologia de Sequência de AminoácidosRESUMO
UNLABELLED: A simple technique for developing large control panels with large quantities of DNA suitable for studies in population genetics was established. BACKGROUND AND OBJECTIVES: Both a lack of suitable controls and insufficient quantities of DNA for repeated analysis of the same control group often hamper the investigation of genetic markers for disease. MATERIALS AND METHODS: Using a waste product from routine blood donation, we describe a simple method that allows the investigator to extract large amounts of DNA. RESULTS: A mean of 1520 microg of DNA per sample was obtained. The DNA obtained remains suitable for polymerase chain reaction and sequencing techniques after 2 years of storage at both 4 degrees C and -40 degrees C. CONCLUSION: This technique allows the development of a large panel of controls with sufficient quantities of genomic DNA for thousands of tests.