RESUMO
This study reports sequence characteristics and population genetic data on a 'new' STR locus HumHUU (D16S3433) located in the non-coding region of chromosome 16q. Based on a population sample of 306 non-related Polish individuals 205 genotypes and 15 alleles with length range of 157-211bp were distinguished. No deviation from HWE was observed. The sequence analysis of each D16S3433 allele revealed a tetranucleotide repeat motif with a basic sequence structure (AAAA)(0-1)(AAAG)(11-22)(AAAAG)(AAAA)(AG)(AAAAAAG). The power of discrimination is 0.9538, showing a high degree of polymorphism. The presented results demonstrate that the D16S3433 is a useful genetic marker for forensic purposes and paternity testing.
Assuntos
Repetições de Microssatélites/genética , Alelos , Sequência de Bases , Primers do DNA , Humanos , Reação em Cadeia da Polimerase , Controle de QualidadeRESUMO
Bladder cancer is one of the leading causes of cancer death in most developed countries. In this work, 19 bladder cancer specimens, along with their infiltrations of the urinary bladder wall from the same patients, were examined for the presence of H-RAS, K-RAS, and N-RAS activation using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The H-RAS activation was found in 15 (about 84%) of the 19 bladder cancers studied. The same results were obtained in the infiltrating urinary bladder wall samples. N-RAS gene mutations were observed in all cases (except 1) in which H-RAS gene mutations were detected. The results suggest a strong relationship between H-RAS and N-RAS gene activation in bladder cancer. Changes in the K-RAS gene in bladder cancers seem to be a rare event; this is in agreement with findings of other authors. We found activation of the gene in one specimen of bladder cancer and its infiltration of the urinary bladder wall in the same patient.
Assuntos
Regulação Neoplásica da Expressão Gênica/genética , Genes ras/genética , Neoplasias da Bexiga Urinária/genética , Idoso , Códon , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Invasividade Neoplásica , Reação em Cadeia da Polimerase/métodos , Polimorfismo de Fragmento de Restrição , Ativação Transcricional , Neoplasias da Bexiga Urinária/patologiaRESUMO
Complementary DNA (cDNA) encoding a protein component pB1 (also pAIF-1 and DQH) of the 54-kilodalton glycoprotein of boar seminal plasma was cloned and its nucleotide sequence was determined (Gene Bank accession no. AF047026). The pB1 precursor protein is a 130-amino-acid-long polypeptide containing a 25-amino-acid-long signal peptide. The amino acid sequence of the pB1 is homologous to that of SFP1_BOVIN (named also BSP-A1/A2, PDC-109/ major protein and SVSp109), SFP3_BOVIN (BSP-A3), SFP4 BOVIN (BSP-30 KD), and SP1_HORSE (HSP-1) seminal plasma proteins. The homology extends also for the signal peptide of SFP1_BOVIN protein. All these seminal plasma proteins contain two fibronectin type-II domains that differ from those found in other proteins such as colagenases, fibronectins, and mannose receptors. The first domain located in the N-terminal region of pB1 is four amino acids shorter than those present in other proteins. High homology is also observed between 3' noncoding regions of the nucleotide sequences of cDNAs of pB1_PIG and SFP1_BOVIN (Gene Bank accession nos. AF047026 and P02784, respectively).
