X linked progressive cone-rod dystrophy (COD) is a retinal disease primarily affecting the cone photoreceptors. The disease is genetically heterogeneous and two loci, COD1 (Xp21.1-11.4) and COD2 (Xq27.2-28), have been previously identified. COD1 was recently shown to be caused by mutations in RPGR exon ORF15 (Xp21.1), the gene that is also responsible for RP3 type retinitis pigmentosa. In this ...

Myelodysplastic syndrome (MDS) is a hematological malignancy of undetermined etiology, possibly linked to chromosomal structural alterations, genetic mutations, presentation and carcinogenicity variant antigens on cell surface, the generation pro-inflammatory microenvironment in bone marrow. Current drugs are unable cure this disease, therefore, decreasing survival proliferation malignant cells...

objectives: genetic polymorphism interactions are among the important factors in affliction with complex diseases like alzheimer’s disease. the important goal of genetic association studies is to identify a combination of polymorphisms and measure their importance in increasing the risk of occurrence of such diseases. in this study, feature selection approach of logic regression was used to ide...

Asthma and associated phenotypes are complex traits most probably caused by an interaction of multiple disease susceptibility genes and environmental factors. Major achievements have occurred in identifying chromosomal regions and polymorphisms in candidate genes linked to or associated with asthma, atopic dermatitis, IgE levels and response to asthma therapy. The aims of this review are to exp...

OBJECTIVES To review the management of primary immunodeficiency and discuss recent advances in genetic analysis. DESIGN Retrospective study. SETTING University teaching hospital, Hong Kong. PATIENTS Children diagnosed with primary immunodeficiency and followed up in the immunology clinic during the period 1988 to 2003. MAIN OUTCOME MEASURES Demographic data, co-morbidities and treatment...

Immune cell trafficking is an important mechanism for the pathogenesis of inflammatory bowel disease (IBD). The oxysterol receptor GPR183 and its ligands, dihydroxylated oxysterols, can mediate positioning immune cells including innate lymphoid cells. has been mapped to IBD risk locus, however another gene, Ubac2 encoded on reverse strand associated with Behçet's disease, therefore role as a ge...

Objective: Pelizaeus-Merzbacher Disease is a rare X-linked recessive leukodystrophy caused by mutation in the proteolipid protein (PLP) gene on chromosome Xq22. PMD an early-onset neurological disorder characterized nystagmus, spastic quadriplegia, ataxia, and developmental delay. Genetic analysis has identified Xq22 microduplications (60-70%), point mutations (10–25%), deletions (5-10%) within...