An understanding of why people smoke cigarettes can have an important impact on smoking prevention and cessation. People smoke cigarettes to maintain nicotine levels in the body, and nicotine has been implicated in the stimulation of brain reward mechanisms via central neuronal dopaminergic pathways. In this study, we evaluated the association of smoking and smoking cessation with a dopamine D4...

Title of Dissertation: NFKB1 Gene Promoter Polymorphism and Unidirectional Laminar Shear Stress: Implications for NF-κB activation, eNOS Protein Expression and Endothelial Function Joon Young Park, Doctor of Philosophy, 2006 Directed by: Professor Michael D. Brown Department of Kinesiology Exercise stimulus can be defined as endothelial wall shear stress. In the endothelial cells, the nuclear f...

Hereditary hemochromatosis has an autosomal recessive inheritance pattern. The homozygous diseased state occurs in 50 of 10,000 and the heterozygous non-diseased carrier state in 1000 of 10,000 caucasians.3 The typical case has two unaffected heterozygote carrier parents. However, HH can occur in consecutive generations owing to the chance mating between an as-yet-undetected homozygote and a he...

Suxamethonium apnoea developed in a patient who was a homozygote for the atypical gene. Fifty-five members of the patient's family were investigated. Seven further homozygotes were found. Suxamethonium apnoea had been demonstrated previously in one of these. Thirty-two members of the family were heterozygotes.

Objectives Recent studies have shown that interleukin-23 receptor (IL23R) polymorphisms confer susceptibility to ankylosing spondylitis, psoriasis, psoriatic arthritis and Crohn’s disease. The A allele of rs1004819 was found in a significantly higher frequency among patients suffering from these diseases compared to controls. We aimed to determine the affect of rs1004819 in M694V homozygote FMF...

A severely affected child born to consanguineous parents is interpreted as being a homozygote for the dominantly inherited piebald trait. The striking phenotypic difference between the parents and the child implies intermediate inheritance of this condition, and the family also illustrates that consanguinity should not always be taken to indicate genetic heterogeneity and recessive inheritance.

The first observation of homozygote Hb Q-Iran (α1 75(EF4) Asp-His) is presented in this report. The clinical and hematological data of the index case, his father and mother showed that homozygous or heterozygous Hb Q-Iran has no clinical importance.

Cultured skin fibroblasts from five patients with atherosclerosis who underwent coronary artery bypass graft surgery were compared with those from one ataxia telangiectasia (AT) homozygote, three AT heterozygotes, and five healthy subjects to determine their sensitivity to gamma radiation as determined by a colony survival assay. Fibroblasts from four of these patients were also compared with t...

BACKGROUND Eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are associated with protection against components of the metabolic syndrome, but the role of alpha-linolenic acid (ALA), the metabolic precursor of EPA and DHA, has not been studied. The Delta(6)-desaturase enzyme converts ALA into EPA and DHA, and genetic variation in the Delta(6)-desaturase gene (FADS2) may affect this conv...