compatible with heterozygosity. No individuals homozygous for the Cys282Tyr mutation were identified. To validate the method for detection of the homozygous mutant genotype , the assay was performed on a blood sample from a known homozygote. The NSS ratios for this individual, in two evaluations, were 9.1 and 7.4, within the predicted range. The results of PCR-RFLP testing were in complete agre...

is more sensitive but requires two steps [two rounds of amplification (PCR LDR) are needed]. The costs for setup are larger (PCR primers and three labeled oligonucleotides are needed per SNP) with respect to PCR/RFLP and allele-specific PCR but are similar for the TaqMan assay. The main advantage consists in the inherent multiplexing capability that can increase throughput, which decreases cost...

The objective of the present study was to investigate the polymorphism in 5′ non-coding region of growth hormone receptor (GHR) gene in Sahiwal (n = 53) and Hariana (n = 50) cattle using NsiI/PCR-RFLP assay. Amplification of DNA sample revealed 302bp product using specific primer pairs and digested by using NsiI restriction enzyme. All the screened animals were found monomorphic in nature for G...

BACKGROUND Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA). METHODS A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used. RESULTS A G527T point mutation was identified. This resulted in a substitution of tyrosine for asparagine at residue 159 ...

Calreticulin (CALR) mutations are included in the WHO diagnostic criteria of Myeloproliferative Neoplasm (MPN). Presence CALR mutation, aids their diagnosis by excluding reactive causes. There several molecular techniques to detect mutations; however, these require advanced equipment and technical expertise. An in-house “polymerase chain reaction-restriction fragment length polymorphism (PCR- R...

Chromosomal Localization: The 3 polymorphic bands were mapped to chromosome 22 using a somatic cell hybrid panel. The 2.1 kb constant band mapped to chromosome lq whereas all other constant bands mapped to chromosome 20. Whereas the active gene for hTOPl is located on chromosome 20ql 1.2—13.1, two pseudogenes are on chromosomes Iq23—24 and 22qll.2-13.1 (2). The sequences of hTOPl and the two ps...

The study determined the genetic heterogeneity of Helicobacter pylori isolates from antrum and corpus of the same dyspeptic patients in a Thai population and determined the relationship between the antimicrobial susceptibility (AS) profile (antibiogram) and PCR-restriction fragment length polymorphism (PCR-RFLP) pattern. One hundred and nineteen H. pylori isolates comprising 7 single and 56 pai...

Article type: Original article Objective(s): The utilization of molecular techniques in the epidemiology of tuberculosis have provided an opportunity for using effective markers to trace the transmission of the disease .The purpose of this study was to compare the genetic patterns of Mycobacterium tuberculosis by three methods of RFLP technique. Materials and Methods: In a cross-sectional and p...