background : the main function of the pineal hormone melatonin which is mediated via its two receptors, mtnr1a and mtnr1b, is to mediate dark signals in addition to anti-oxidation, immune system enhancement, protection from radiation, and anti-cancer functions. a common single nucleotide polymorphism in the mtnr1b gene is rs#10830963, which is well known as a risk factor for type 2 diabetes mel...

The melanocortin-1 receptor (MC1R) gene has been investigated by many studies regarding the pigmentation variation in various species. In order to determine its allelic and genotypic distribution, we sequenced the goat MC1R gene from 78 individuals in ten populations (Gembrong, Senduro, Ettawa Grade, Boerawa, Boerka, Kosta, Samosir, Muara, Boer and Kacang). Direct sequencing m...

ataxia telangiectasia (at) is an autosomal recessive multi-system disorder, characterized by variable immunodeficiency, progressive neurodegeneration, occulocutaneous telangiectasia, and increased susceptibility to malignancies. this study was designed to study the role of pro-apoptotic bak, bax, nbk/bik genes in a group of patients with at to elucidate the possible role of these genes in progr...

defects in genes for survival motor neuron (smn) and neural apoptosis inhibitory proteins (naip) have been reported associated with spinal muscular atrophy (sma). among the genetic defects, deletions in exons 7 and 8 of smn and exons 4 and 5 of naip were found to be most significant. in the current study, 35 unrelated sma patients including 9 patients with type i, 6 with type ii, 20 with type i...

the aim of the present study was to screen the genotype profile of bovine kappa-casein gene among frieswal (hf × sahiwal) crossbred cattle developed in india. a total number of two hundred frieswal cows were evaluated for hinfi rflp based genotyping of kappa-casein gene. we observed that only two genotypes (aa and ab) exist among the studied population with the genotype frequency of 0.58 (n=117...

Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...