Identification of a factor IX point mutation using SSCP analysis and direct sequencing

Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy.

The recent achievement of the human genome project has led to the identification of many disease genes in common hereditary conditions, in which patients and their relatives would benefit from genetic diagnosis. This has increased the need for simple, sensitive, and cost effective methods of mutation analysis. However, the “gold standard” of mutation analysis, direct sequencing, is still an exp...

‏‎a phonological contrastive analysis of kurdish and english‎‏

deposite the different criticisms on contrastive analysis it has been proved that the results of it(when processed)can be usuful in a tefl environment,specially at the level of phonology.this study is an attempt to compare and contrast the sound systems of kurdish and english for pedagogical aims. the consonants,vowels,stress and intonation of the twolanguages are described by the same model-ta...

Identification of heterozygous point mutation events in DNA sequencing chromatograms

The recent discovery of activating somatic mutations in cancer that correlate with phenotypes such as drug responsiveness, has generated renewed interest in the sequencing of genomes of tumor samples and cancer cancer cell lines with the goal of identifying the set of mutations that produce those phenotypes [1]. The two most popular strategies for discovering these events are array CGH [2], and...

Use of non-radioactive detection in SSCP, direct DNA sequencing and LOH analysis.

Aims-To develop a protocol that is applicable to single strand conformation polymorphism (SSCP), direct sequencing and loss of heterozygosity analysis of DNA.Methods-The protocol is based on the detection of biotinylated DNA by a Streptavidin-alkaline phosphatase conjugate. Biotinylation of DNA was achieved by using 5'-end biotinylated primers for PCR. After polyacrylamide gel electrophoresis, ...

Carrier Determination in a Hemophilia B Family Using Single Strand Conformation Polymorphism (SSCP) and Sequencing