نتایج جستجو برای: ivs8 polyt
تعداد نتایج: 142 فیلتر نتایج به سال:
Background: Cystic fibrosis (CF) is a multiorgan autosomal recessive disorder. As CF is highly heterogeneous in Iran and many mutations have a low frequency, routine molecular diagnostic methods are not very efficient. The use of highly polymorphic intragenic markers not only can facilitate phenotype prediction in prenatal diagnosis by gene tracking, but also can lead to the demonstration of po...
زمینه و هدف : فیبروزکیستی بیماری ژنتیکی با الگوی توارثی اتوزوم مغلوبی است که باعث درگیر شدن چندین ارگان می شود. به کارگیری مارکرهای پلی مورفیک در ردگیری ژنی می تواند راه حلی مناسب در زمینه تشخیص پیش از تولد ارایه کند هم چنین می تواند در بررسی همراهی احتمالی هاپلوتیپ ها با جهش های خاص استفاده گردد. این تحقیق به بررسی پلی مورفیسم های ivs8 poly t و m470v در افراد سالم و کودکان مبتلا به فیبروزکیستی...
Congenital bilateral absence of the vas deferens (CBAVD) found in otherwise healthy infertile males, is associated with a high incidence of mutated cystic fibrosis transmembrane conductance regulator (CFTR) alleles, and is considered a genital form of cystic fibrosis (CF). The CF gene may also be involved in the aetiology of male infertility in cases other than CBAVD. The present study was unde...
Compound heterozygotes for a severe cystic fibrosis transmembrane conductance regulator (CFTR) mutation and the R117H or R117C mutation (R117H/C) have clinical presentations that vary from classic cystic fibrosis (CF) to an incidental genetic finding. The aim of this study was to assess the influence of the intron-8 polythvmidine sequence (IVS8) on the relationship between genotype and phenotyp...
Synthetic immune response modifiers (IRM) such as imidazoquinolines can selectively activate human TLR7 or TLR8. Although these endosomal TLRs are close relatives, TLR7-deficient mice are unresponsive to TLR8 agonist IRMs. Similarly, natural ssRNA cannot activate murine TLR8, leading to the belief that murine TLR8 is nonfunctional. In this study, we transfected HEK293 cells with murine TLR8 and...
BACKGROUND Primary open angle glaucoma is a progressive optic neuropathy characterised by the selective loss of retinal ganglion cells, pathological optic disc cupping and visual field defects. The OPA1 gene encodes an inner mitochondrial membrane protein crucial for normal mitochondrial function, and pathogenic mutations cause autosomal dominant optic atrophy by specifically targeting retinal ...
Alternative polyadenylation is a key regulatory process which affects the 3' end formation of variants of the same transcription unit, thus altering gene expression pattern, and transcripts' cellular behaviour and characteristics. The common methodology for computational analysis of alternative polyadenylation signal utilization is based on EST data, specifically on PolyA/PolyT tailed ESTs. Stu...
Available commercial kits only screen for the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations causing classic cystic fibrosis and for the Tn variant in IVS8. However, full scanning of CFTR is needed for the diagnosis of patients with cystic fibrosis or CFTR-related disorders (including congenital bilateral absence of the vas deferens) bearing rare mutations. Sta...
Twelve single nucleotide polymorphisms (SNPs) in the human CES2 gene, which encodes a carboxylesterase, hCE-2 [human carboxylesterase 2 (EC 3.1.1.1)], have been reported in the Japanese. In this report, we have examined functional alterations of three SNPs, a nonsynonymous SNP (100C>T, R34W), an SNP at the splice acceptor site in intron 8 (IVS8-2A>G), and one newly discovered nonsynonymous SNP ...
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