background: hemophilia b is an x-linked recessive coagulation disorder caused by factor ix deficiency.  analysis of factor ix gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia b where the identification of gene mutation is not easily possible.   objective: to study the frequency of three factor ix-linked restriction fragment length pol...

BACKGROUND Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and ocular abnormalities. Alport syndrome is however often unrecognized, and the aim of this study was to characterize the associated but rarely described peripheral retinopathy and determine whether its demonstration was diagnostically helpful. METHODS Index cases were diagnosed with Alport syndrome ...

Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis appears to be caused by Huntington’s disease-like type 2 exp...

Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis appears to be caused by Huntington’s disease-like type 2 exp...

parkinsonism is used to describe a syndrome manifested by any combination of six cardinal features: tremor at rest, rigidity, bradykinesia, loss of postural reflexes, flexed posture and the freezing. decreased dopaminergic neurotransmission in the basal ganglia is the core biochemical pathology in parkinsonism. hereditary parkinsonism includes various heredodegenerative diseases such as hallerv...

Anthracnose caused by Colletotrichum graminicola is one of the major diseases of sorghum. The locus for disease resistance in sorghum [Sorghum biocolor (L.) Moench] accession G73 was found to segregate as a simple recessive trait in a cross to susceptible cultivar HC136. In order to identify molecular markers linked to the locus for disease resistance, random amplified polymorphic DNA (RAPD) an...