Mitochondrial DNA (mtDNA) gene defects may play a role in the development of non-insulin dependent diabetes mellitus (NIDDM). In order to search for potentially diabetogenic mtDNA defects we have applied the technique of single stranded conformational polymorphism (SSCP) analysis to 124 patients with a history of NIDDM and 40 non-diabetic controls. No new heteroplasmic mutations were detected. ...

Materials and methods: In this study a total of 17 trophozoite samples, obtained either directly from stool samples or after excystation, or by duodenal aspiration, were used. A set of primers was chosen to amplify the different regions of triose phosphate isomerase (tpi) and a segment of the glutamate dehydrogenase (gdh) genes. A single-stranded conformational polymorphism technique was also u...

background: trichomonas vaginalis is the agent of urogenital tract infection that causes human trichomoniasis with some serious health complications. more understanding about genetic features of the parasite can be helpful in the study of the pathogenesis, drug susceptibility and epidemiology of the infection. for this end,we conducted analysis of the actin gene of t. vaginalis by applying the ...

Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mutations in FBH and NHPT and to explore methods for their more rapid detection. Nine unrelated kindreds (39 affected, 32 unaffected members) with FB...

The tumor necrosis factor (TNF) alpha gene lies within the class III region of the major histocompatibility complex (MHC), telomeric to the class II and centromeric to the class I region. We have recently described the first polymorphism within the human TNF-alpha locus. This is biallelic and lies within the promoter region. Frequency analysis of the TNF-alpha polymorphism, using the polymerase...

The tumor necrosis factor (TNF) c~ gene lies within the class III region of the major histocompatibility complex (MHC), telomeric to the class II and centromeric to the class I region. We have recently described the first polymorphism within the human TNF-ct locus. This is biallelic and lies within the promoter region. Frequency analysis of the TNF-o~ polymorphism, using the polymerase chain re...