Introduction: Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, phenomenon now acknowledged as good prognostic factor. Herein, we describe the case P1, FA proband carrying splicing variant, molecularly compensated by de novo insertion. Methods and Results: Targeted next-generation sequencing on P1’s peripheral blood DNA detected kn...

PCR is widely employed as the initial DNA amplification step for genetic testing and cancer biomarker detection. However, a key limitation of PCR-based methods, including real-time PCR, is the inability to selectively amplify low levels of variant alleles in a wild-type allele background. As a result, downstream assays are limited in their ability to identify subtle genetic changes that can hav...

Nested Patch polymerase chain reaction (PCR) amplifies a large number (greater than 90) of targeted loci from genomic DNA simultaneously in the same reaction. These amplified loci can then be sequenced on a second-generation sequencing machine to detect single nucleotide polymorphisms (SNPs) and mutations. The reaction is highly specific: 90% of sequencing reads match targeted loci. Nested Patc...

Advances in biotechnology has been the subject of praise for a decade now, this is due to techniques such as gene expression which contributed immensely success genetic engineering, medical advancement, vaccine production and agriculture. Gene become very important tool overall improvement quality life. This paper tries look into development last forty years highlight how technological advancem...

The Scottish Meningococcus and Pneumococcus Reference Laboratory provides a national service for the laboratory confirmation of meningococcal and pneumococcal disease in Scotland. The main tests used for the laboratory confirmation of meningococcal disease are culture, the polymerase chain reaction (PCR), antibody testing, and more recently DNA sequencing. This paper describes the automation of...

Materials and methods: During the NICU outbreak management, 40 clinical samples (from 15 newborn infants and 25 health care providers) were sent to a microbiology laboratory in viral transport media. All the samples were processed using a direct fluorescent antibody (DFA) test and a shell vial cell culture followed by adenovirus polymerase chain reaction (PCR) and DNA sequencing. PCR and DNA se...

Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...

AIMS To identify oocysts found in faecal material of a greyhound. METHODS Polymerase chain reaction (PCR) and DNA sequencing were used to study genomic DNA isolated from oocysts purified from faeces of a greyhound. RESULTS Database searches with the DNA sequences obtained showed they were derived from Hammondia heydorni. A species-specific PCR was developed to detect H. heydorni DNA. CONC...