Interaction of the Tramtrack protein from Drosophila melanogaster with DNA was analyzed by a cross-linking method. Tramtrack residues cross-linkable to the partially depurinated DNA were identified by direct sequencing. The N-terminal alpha-amino group of the protein DNA-binding domain was found to be the major product of cross-linking. The location of the N terminus on the DNA was determined b...

The Lithuanians and Latvians are the only two Baltic cultures that survived until today. Since the Neolithic period the native inhabitants of the present-day Lithuanian territory have not been replaced by any other ethnic group. Therefore the genetic characterization of the present-day Lithuanians may shed some light on the early history of the Balts. We have analysed 120 DNA samples from two L...

BACKGROUND Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes. LAMB2 was the causative gene. METHODS A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing. RESULTS Two novel mutations were identified, C757fsX767 and P141...

We describe an improved, fast, automated method for screening large genes such as BRCA2 for germline genomic mutations. The method is based on heteroduplex analysis, and has been adapted for a high throughput application by combining the fluorescent technology of automated sequencers and robotic sample handling. This novel approach allows the entire BRCA2 gene to be screened with appropriate ov...

A total of 173 samples obtained from adult patients with de novo acute myeloid leukemia (AML) were assayed for exon 3 PTPN11 mutations by single strand conformation polymorphism (SSCP) analysis and direct sequencing. Only three monocytic leukemias had point mutations (1.73%).

Direct sequencing of nine Sendai virus defective interfering RNA species revealed two kinds of 3'-terminal sequences. Six RNA species had 3' termini identical to the virus genome (negative strand), confirming that internal deletions are a frequent cause of Sendai virus defectiveness. The other three RNA species had 3'-terminal sequences identical to that described as the complement of the 5' te...

Hypospadias is one of the most common congenital malformations among children. Both gene mutations and environmental factors are thought to be involved in the development of hypospadias. The mastermind-like domain-containing 1 gene (MAMLD1, formerly CXorf6) is a new candidate gene and its mutation has been shown in some cases of hypospadias. Here, by direct sequencing of PCR products, we assess...

OBJECTIVES The aim of this study was to determine the prevalence and characteristics of qnr-carrying Salmonella isolates from humans in southern Taiwan. METHODS A total of 446 Salmonella isolates collected between 2003 and 2006 were screened for qnrA, qnrB and qnrS by PCR experiments. Genetic structures of qnr were determined by PCR-based methods or direct sequencing of plasmid DNA. RESULTS...

Next-generation genomic sequencing technologies have made it possible to directly map mutations responsible for phenotypes of interest via direct sequencing. However, most mapping strategies proposed to date require some prior genetic analysis, which can be very time-consuming even in genetically tractable organisms. Here we present a de novo method for rapidly and robustly mapping the physical...