RATIONALE Familial hypercholesterolemia is a genetic disorder that arises because of loss-of-function mutations in the low-density lipoprotein receptor (LDLR) and homozygous familial hypercholesterolemia is a candidate for gene therapy using adeno-associated viral vectors. Proprotein convertase subtilisin/kexin type 9 (PCSK9) and inducible degrader of LDLR (IDOL) negatively regulate LDLR protei...

Stress proteins and their genetic polymorphisms have been associated with decreased male and female fertility. Objectives were to: (1) identify single nucleotide polymorphisms (SNP) located in the promoter region of the bovine heat shock protein 70 (Hsp70) gene, and (2) evaluate associations between Hsp70 SNP, Julian calving date, and calving rates of crossbred Brahman cows. Specific primers we...

Results Among 317 patients; 18 (7 females, 11 males) were enrolled. Consanguinity and family history of FMF were present in 28% and 56% of the patients, respectively. Clinical features seemed to be similar to general FMF patients; however, 50% of the patients were fussy children. The diagnosis of FMF was significantly delayed; the mean age at onset of therapy was 65.44 + 43.75 months. 38% of th...

One intradermal injection of incomplete Freund's adjuvant-oil induces a T cell-mediated inflammatory joint disease in DA rats. Susceptibility genes for oil-induced arthritis (OIA) are located both within and outside the major histocompatibility complex (MHC, Oia1). We have searched for disease-linked non-MHC loci in an F2 intercross between DA rats and MHC-identical but arthritis-resistant LEW....

The activities of enzymes involved in the formation and catabolism of 6-thiopurine nucleotide were assayed in leukocytes of leukemic patients considered either suscepti ble or resistant to the 6-thiopurines. Altered ratios of the activities of hypoxanthine-guanine phosphoribosyltransferase (H-GPRT) and adenine phosphoribosyltransferase were noted in leukocytes from 3 of 11 resistant acute nonly...

take-all disease of wheat (gaeumannomyces graminis var. tritici) (ggt) is one of the most destructive root diseases in the world. it has not been introduced resistant genotype against this disease. in this study, 416 genotype of bread wheat, received from different location of iran and other countries, were evaluated to take-all (t-41 isolate) in greenhouse conditions. root dry weight, shoot dr...

Three chromosomal factors called Spore killer (Sk) have been found in wild populations of Neurospora sitophila and N. intermedia. Sk resembles other examples of meiotic drive such as Segregation Distorter in Drosophila, Pollen killer in wheat, and Gamete eliminator in tomato. In crosses heterozygous for Sk, each ascus contains four viable black ascospores and four inviable, undersize, clear asc...

The functional 5A/6A polymorphism of the stromelysin-1 promoter has been implicated as a potential genetic marker for the progression of angiographically determined atherosclerosis in patients with coronary artery disease. Recently, a novel interleukin-6 (IL-6) gene functional G/C polymorphism at -174 in the promoter has also been reported. In this study, we analyzed the relation of these two p...

Tomato is the second most important vegetable crop in world after potato. Its production hindered by fungal and viral diseases. Control of these diseases requires a significant investment that represents up to 40% costs. Marker-assisted gene pyramiding powerful breeding tool which allow rapid constitution lines with broad spectrum resistance against Nevertheless, accuracy rapidity introgression...