spinal muscular atrophy (sma) is a common autosomal recessive neuromuscular disorder caused by the loss of α-motor neurons in the spinal cord. the survival motor neuron (smn) protein is encoded by 2 genes, smn1 and smn2. the most frequent mutation is the biallelic deletion of exon 7 of the smn1 gene. smn2 cannot compensate for the loss of smn1, due to the exclusion of exon 7. carrier frequency ...

background: polycystic ovary syndrome (pcos) is a complex disease having both genetic and environmental components and candidate genes on obesity and insulin metabolism have been hypothesized to be involved in its etiology. objective: we examined the possible association of adiponectin and insulin receptor gene polymorphisms with pcos. materials and methods: a total of 186 women with pcos using...

background: spinal muscular atrophy (sma) is the second most common lethal autosomal recessive disease. it is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. the smn1 gene is recognized as a sma causing gene while naip has been characterized as a modifying factor for the clinical s...

Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

Objective(s) Deregulation of the immune system through allied factors and cytokine responses are thought to be important contributors to the pathogenesis of asthma. Vitamin D3 and its nuclear receptor appear to be factors that maybe involved in regulating immune responses during the progression of asthma. The aim of this study was to investigate the association between polymorphisms in intron ...

background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. methods: in this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and aoa, with increased cholesterol concentration and decr...

objective(s) deregulation of the immune system through allied factors and cytokine responses are thought to be important contributors to the pathogenesis of asthma. vitamin d3 and its nuclear receptor appear to be factors that maybe involved in regulating immune responses during the progression of asthma. the aim of this study was to investigate the association between polymorphisms in intron 8...

background: some dynamic changes occurs during spermatogenesis such as histone removal and its replacement with transition nuclear protein and protamine. these proteins are required for packing and condensation of sperm chromatin. jhdm2a is a histone demethylase that directly binds to promoter regions of tnp1 and prm1 genes and controls their expression by removing h3k9 at their promoters.objec...

the diacylglycerol acyltransferase 1 gene (dgat1) was identified as a strong candidate gene affecting mutton quality traits in sheep. single nucleotide polymorphism creates a single base mutation (c to t) in agct site of endonuclease alui. dgat1 is one of the candidate genes to improve carcass characteristics in feedlot animals. in order to study area t487c in exon 17 of the dgat1 polymorphism,...