Recent developments in molecular and human genetics have increased interest in genetics. Clinical genetics is involved in the diagnosis, management, and control of hereditary disorders and has emerged as an important discipline in small animal practice for several reasons. Effective preventative measures reduced the frequency of infections, nutritional disturbances, and intoxications. Furthermo...

A rare case of hereditary spherocytosis (HS) and rheumatic mitral stenosis coexisting in a patient having severe stenosis, atrial fibrillation, symptoms the left ventricular dysfunction, along with hemolytic anemia attributed to HS. We present 58-year-old lady who presented emergency department complaints increasing shortness breath for past week. She was examined have fibrillation fast rate. O...

In western European countries prostate cancer is one of the most common malignant disease among male population. Due to innovations in molecular genetics research technology over recent years genetic features etiology and pathogenesis have been discovered this helped distinguish people with high risk development. Hereditary forms tumors occupy a special position due association mutations BRCA1/...

Introduction: Hereditary disease discovery and pattern recognition are normally obtained through a large-scale and detailed family health history. However, it is difficult to obtain a large scale, well-orchestrated family health history. Here we try a new method for hereditary disease and pattern discovery without obtaining family health history. Background and Rationale: Columbia Presbyterian ...

Interference RNAs are non-coding produced naturally o synthetically that temporarily inhibit the gene expression of specific genes. With this technology, it is possible to introduce a siRNA molecule against mRNA into cells and reduce synthesis protein encoded on mRNA. This novel strategy has been used by several researchers worldwide in medical area as treatment many hereditary acquired diseases.

Генетические изоляты - особый тип популяций, которые на протяжении многих веков держались обособленно, демонстрируя меньшую генетическую изменчивость и отличаясь по своей генетической структуре от представителей других групп. Высокая степень изоляции малочисленных популяций человека поколений создавала условия для дрейфа генов. Вследствие популяционных механизмов, таких как эффект основателя ил...

Hereditary hypophosphatemic rickets (HHR) are a group of diseases characterized by renal phosphate wasting causing growth retardation, rickets and osteomalacia. The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene. The other hereditary hypophosphatemic syndromes present a lower prevalence. These include autosomal dominant hypop...