BACKGROUND The A3243G mutation of mitochondrial DNA (mtDNA) is involved in many common diseases, including diabetes mellitus and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). For detection of this mutation, allele-specific PCR is highly sensitive but requires strict control of PCR conditions; it thus is not adequate for a routine clinical test. We aimed ...

We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We demonstrate a system, ARMS (Amplification Refractory Mutation System), that allows genotyping solely by inspection of reaction mixtures after agarose gel electrophoresis. The system is simple, reliable and non-isotopic. It will clearly distinguish heterozygotes at a locus fro...

Abstract Objectives Human identification systems based on STRs are widely used in human population genetics and forensic analysis. This study aimed to validate the cross-reactivity of three known human-specific STR i.e. GlobalFiler™ PCR Amplification Kit, Investigator 24plex QS PowerPlex® Fusion 6C chimpanzee. Results The present revealed successful amplification 18 loci using 20 system. marker...

The present study was planned with the objective to amplify 5’NCR Insulin-like growth factor 1 (IGF1) and 3’UTR Prolactin receptor (PRLR) genes using caprine specific primers by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) in Surti Mehsana goats. IGF1 gene found be monomorphic on restriction digestion HaeIII, which revealed only one genotype GG both allele frequ...

BACKGROUND Malignant hyperthermia (MH) is a dominantly inherited skeletal muscle disorder that can cause a fatal hypermetabolic reaction to general anaesthetics. The primary locus of MH (MHS1 locus) in humans is linked to chromosome 19q13.1, the position of the gene encoding the ryanodine receptor skeletal muscle calcium release channel (RyR1). METHODS In this study, an inexpensive allele-spe...

Background and Objectives: Chronic myeloid leukemia (CML) initiation progression is regulated by epigenetic genetic alterations. Imatinib therapy resistance in CML patients important clinical issue. To understand association of kinase domain mutation promoter hypermethylation genes with imatinib hold significance North-East India. This study a hospital based cross sectional study. Methods: A to...

BACKGROUND Detection of mutations by gel electrophoresis and allele-specific amplification by PCR (AS-PCR) is not easily scaled to accommodate a large number of samples. Alternative electrophoretic formats, such as capillary electrophoresis (CE) and microchip electrophoresis, may provide powerful platforms for simple, fast, automated, and high-throughput mutation detection after allele-specific...

The beta-casein gene is one of the most functional genetic candidate that affect milk quality and composition traits. Among its variants, A1/A2 are common. Therefore, aim this study was to identify distribution Beta-casein variants (A1/A2) in three different cattle breeds order determine which breed produce a better for consumers’ health.
 
 152 blood samples comprises 72 (M...

The Human Major Histocompatibility Complex (MHC) plays a crucial role in transplantation, transfusion, paternity test and assessment of susceptibility to some diseases associated with HLA-B27. Three of the most fashionable methods for determination of HLA antigens in clinical and research laboratories are microlymphocytotoxicity (MLCT), flowcytometry and polymerase chain reaction (PCR). T...

We describe here a quantitative real-time PCR assay for the detection of single-base-pair differences that does not require fluorescently labeled gene-specific probes or complicated primer combinations. Following PCR or RT-PCR of a gene segment that may contain allele-specific differences, 100 pg amplified product are used for a real-time PCR with allele-specific primers and SYBR Green. The use...