Familial adenomatous polyposis (FAP) is a genetic disease created by an abnormality of chromosome number five resulting in a generalized cellular growth disorder. The growth abnormality created by the genetic defect dictates the development of benign and malignant lesions in different organs of the body. Even the term familial adenomatous polyposis does not fully describe the defect because les...

Down’s syndrome (DS) is the most common aneuploidy diagnosed in liveborn babies ( 1/700 live births). While DS is typically associated with recognizable dysmorphic features, clinical anomalies exhibit variable expressivity. The DS phenotype includes many organ systems and affects all three embryonic germ layers. DS is the most frequent chromosomal cause of mental retardation, is a recognized ge...

Deletion of single genes from expanded gene families in bacterial genomes often does not elicit a phenotype thus implying redundancy or functional non-essentiality of paralogous genes. The molecular mechanisms that facilitate evolutionary maintenance of such paralogs despite selective pressures against redundancy remain mostly unexplored. Here, we investigate the evolutionary, genetic, and func...

RATIONALE Brugada syndrome (BrS) is a cardiac ion channel disease that is caused by an autosomal dominant genetic abnormality. A ventricular septal defect is a common congenital heart disease, in which genetic defects play a significant role. PATIENT CONCERNS We report an extremely rare case of a 42-year-old male with congenital heart disease, who suffered recurrent syncope and gastrointestin...

muscular dystrophies are inherited disorders that cause progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. some of the genes responsible for these conditions have been identified .there are a number of different types of muscular dystrophy. the primary symptom for most types is muscle weakness, althou...

Background One of the main causes of male infertility is defect in structure and function of sperm cells. Infertile men with oligoasthenoteratospermia (OAT) defect, have sperms with abnormalities in count, motility and morphology. Patients with immotile short tail sperm (ISTS) disorder have immotile short-tailed sperm with disorganized axonem, and a significant decrease in sperm counts. Numerou...

Morphological limbs defects are the most frequent in horses. The aim of this study was to establish prevalence, associated effects and genetic parameters hock knee Pura Raza Española horses, using two different approaches. In Approach_1, analysed were closed, open, convergent divergent studied buck, calf, bench knock. Defects classified into 3 levels: 0 no defect, 1 slight defect 2 serious defe...

Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can...

Recombinant DNA techniques offer the possibility of diagnosing genetic defects directly by analysing DNA itself. This is especially interesting for detecting carriers of recessive defects. In comparison with phenotypic screening with progeny testing or biochemical tests, DNA screening is independent of the time of gene expression and is not influenced by non-genetic effects. If the mutation cau...