The C57BLKS/J-Lepr(db) mouse has a point mutation in the leptin receptor gene and is one of the most useful animal model for non-insulin dependent diabetes mellitus in human. Since the homozygote of C57BLKS/J-Lepr(db) mouse is infertile, detection of point mutation in the leptin receptor gene is important for efficient maintaining strains as well as mass production of homozygotes. To develop a ...

abstract

DNA mutations underlie the pathology of inherited disease. The spectrum of genetic changes resulting in disease is diverse, often encompassing both point (single-nucleotide) and length (large deletions) mutations: cystic fibrosis (2) and the muscular dystrophies (10) are classic examples. Similarly, mutational events implicated in carcinogenesis include both single nucleotide substitutions and ...

INTRODUCTION The T to C transition at nucleotide 1565 of the human glycoprotein IIIa (ITGB3) gene represents a genetic polymorphism (PlA1/A2) that can influence both platelet activation and aggregation and that has been associated with many types of disease. Here, we present a newly designed multiplex tetra-primer amplification refractory mutation system - polymerase chain reaction (T-ARMS-PCR)...

The purpose of this study was to develop a SNaPshot® assay to simultaneously discriminate between the dystrophic and wild type (wt) alleles in mdx mice. The mdx mouse is an animal model for Duchenne muscular dystrophy (DMD), a severe and fatal muscle wasting disease. To evaluate possible treatments and to carry out genetic studies, it is essential to distinguish between mice that carry the muta...

background inflammatory bowel disease (ibd) is a chronic, relapsing, inflammatory disorder of the gastrointestinal tract that includes two entities, crohn`s disease (cd) and ulcerative colitis (uc). as with other complex diseases, both genetic susceptibility and environmental factors play role in the pathogenesis of these diseases. the tumor necrosis factor α (tnf-α) gene is located in the ibd3...

PURPOSE Approximately 95% of patients who are diagnosed with Leber's hereditary optic neuropathy (LHON) have one of three mitochondrial point mutations responsible for the disease, G3460A, G11778A, and T14484C. The purpose of this study was to develop a novel multiplex real-time amplification-refractory mutation system (ARMS) PCR combined with high-resolution melt curves to identify the individ...