The clinical course of patients with sickle cell anemia, a Mendelian trait, is characteristically highly variable. HbF concentration and the presence of á thalassemia are established modulators of the disease, but cannot account for all of its clinical heterogeneity. To find additional genetic modulators of disease, genotype-phenotype association studies, where single nucleotide polymorphisms (...

The genetic locus for autosomal dominant adult polycystic kidney disease was recently assigned to chromosome 16 by the finding of genetic linkage to the alpha globin gene cluster. Further study showed that the phosphoglycolate phosphatase locus is also closely linked to both the locus for adult polycystic kidney disease and the alpha globin gene cluster. These findings have important implicatio...

primary immunodeficiency disorders are a heterogeneous group of genetic disorders, with different modes of inheritance, consisting of more than 100 different types. we constructed the dna banking of primary immunodeficiency disorders for the first time in iran. the dna of 31 immunodeficient patients and their families (total of 92 samples) were collected, as the first step for construction of d...

objective(s) alzheimer’s disease (ad) is a complex disease with multifactorial etiology. inflammation has been proven to have an important role in the pathogenesis of ad. both ccr2 and ccr5 genes expression increase in ad patients comparing to control subjects. ccr5 gene encodes a protein which is a member of the beta chemokine receptors family of integral membrane proteins. ccr5-δ32 is a genet...

conclusions rs9364559 in the lpa gene may contribute to the risk of cad in the han chinese population; haplotypes which contain rs9346816-g were all associated with an increased risk of cad in this study. background mutations in the solute carrier family 22 member 3 (slc22a3), lipoprotein (a)-like 2 (lpal2), and the lipoprotein (a) (lpa) gene cluster, which encodes apolipoprotein (a) [apo (a)] ...

leukodystrophies are familial disorders with onset usually in infancy or childhood. the name comes from the greek leuko meaning white and dystrophy meaning imperfect growth or development. leukodystrophy is a progressive, genetic disorder with an autosomal recessive or x-linked mode of inheritance. the clinical features consist of motor dysfunction with varying degrees of cognitive decline. mag...

background : the current study was designed to evaluate immune responses induced by dna vaccines encoding 8-kda subunit of antigen b (hydi) of echinococcus granulosus and murine interleukin 12 (il-12) as genetic adjuvants in balb/c mice. methods : expression plasmid pcdna3.1 containing hydi (pchyd1) as vaccine along with the murine interleukin 12 (pcmil12) as adjuvant were used. thirty-five mic...

Plague (Yersinia pestis infection) is a highly virulent rodent disease that persists in many natural ecosystems. The black rat (Rattus rattus) is the main host involved in the plague focus of the central highlands of Madagascar. Black rat populations from this area are highly resistant to plague, whereas those from areas in which the disease is absent (low altitude zones of Madagascar) are susc...