排序方式: 共有13条查询结果,搜索用时 15 毫秒
1.
Hafedh Makni Jamel Daoud Hanène Ben Salah Nedia Mahfoudh Olfa Haddar Héla Karray Tahya Boudawara Abdelmonême Ghorbel Abdelmajid Khabir Mounir Frikha 《Molecular biology reports》2010,37(5):2533-2539
In order to study the association of HLA-A, -B and/or DRB1, DQB1 and the nasopharyngeal carcinoma (NPC), 141 patients affected
with NPC were typed for the HLA class I by serology method of microlymphocytotoxicity. Among these patients 101 were genotyped
for HLA class II system by the PCR-SSP technique. HLA typing results were compared to those of 116 controls. We found that
the HLA-A31 and -A33 antigens were significantly more expressed in patients than in the controls (P = 0.016 and 0.010, respectively) and the HLA-A19 antigen, was significantly more frequent in patients when compared to the
controls (P = 0.007). The HLA-DRB1*03 and DRB1*13 alleles were significantly more frequent in patients as compared to the controls. The
DRB1*01 allele was expressed with a frequency of 20.69% in the controls whereas it was only detected in 3.96% of the NPC patients.
Furthermore, the DQB1*05 allele was expressed at a frequency which was significantly less important in affected patient (P = 0.03), whereas, the DQB1*02 allele was more frequent in patients (P = 0.643 × 10−4). Thus our study revealed a significant increase of HLA-A31, A33, A19, B16, B53 and DRB1*03, DRB1*13 and DQB1*02 alleles
in our patients. These markers could play a predisposing role in the development of NPC. In contrast, a decrease of HLA-B14,
-B35 and DRB1*01 and DQB1*05 alleles was found suggesting a likely protective effect. 相似文献
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Sfar S Abid A Mahfoudh W Ouragini H Ouechtati F Abdelhak S Chouchane L 《Molecular biology reports》2009,36(4):661-667
Hereditary multiple exostoses (HME) is an autosomal dominant orthopaedic disorder most frequently caused by mutations in the
EXT1 gene. The aim of the present study is to determine the underlying molecular defect of HME in two multigenerational Tunisian
families with 21 affected members and to examine the degree of intrafamilial variability. Linkage analysis was performed using
three microsatellite markers encompassing the EXT1 locus and mutation screening was carried out by direct sequencing. In family 1, evidence for linkage to EXT1 was obtained on the basis of a maximum LOD score of 4.26 at θ = 0.00 with D8S1694 marker. Sequencing of the EXT1 revealed a heterozygous G > T transversion (c.1019G>T) in exon 2, leading to a missense mutation at the codon 340 (p.Arg340Leu).
In family 2 we identified a novel heterozygous 1 bp deletion in the exon 1 (c.529_531delA) leading to a premature codon stop
and truncated EXT1 protein expression (p.Lys177LysfsX15). This mutation was associated with the evidence of an intrafamilial
clinical variability and considered to be a novel disease-causing mutation in the EXT1 gene. These findings provide additional support for the involvement of EXT1 gene in the HME disease. 相似文献
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The objective of this research was to study the ameliorative effects of a standardized quassinoid-rich extract (TAF 273) of Eurycoma longifolia root on some reproductive disorders in female rats. An irregular estrous cycle and ovarian cystic follicles were induced in 21-day-old females by the daily administration of testosterone (10 mg/kg, sc) for three weeks. The hormone-treated rats exhibited persistent diestrous as well as ovaries containing cystic follicles. Upon treatment with TAF 273, fewer animals showed irregular estrous cycles and there was less follicular morphological damage. The reversal effect may be derived from the anti-estrogenic properties of the plant quassinoids. 相似文献
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Rekik Sabrine Sakka Salma Romdhane Sawsan Ben Amer Yasmine Baba Lehkim Leila Farhat Nouha Mahfoudh Khaireddine Ben Authier François Jérôme Dammak Mariem Mhiri Chokri 《Molecular biology reports》2020,47(8):5755-5761
Molecular Biology Reports - Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular disorders, caused by mutations in the dysferlin gene and characterized by a high... 相似文献
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Yosser Achour Mariem Ben Hamad Souhir Chaabane Ahmed Rebai Sameh Marzouk Nadia Mahfoudh Zouhir Bahloul Leila Keskes Abdellatif Maalej 《Journal of genetics》2017,96(6):911-918
Previous genomewide association studies (GWAS) and meta-analyses have enumerated several genes/loci in major histocompatibility complex region, which are consistently associated with rheumatoid arthritis (RA) in different ethnic populations. Given the genetic heterogeneity of the disease, it is necessary to replicate these susceptibility loci in other populations. In this case, we investigate the analysis of two SNPs, rs13192471 and rs6457617, from the human leukocyte antigen (HLA) region with the risk of RA in Tunisian population. These SNPs were previously identified to have a strong RA association signal in several GWAS studies. A case–control sample composed of 142 RA patients and 123 healthy controls was analysed. Genotyping of rs13192471 and rs6457617 was carried out using real-time PCR methods by TaqMan allelic discrimination assay. A trend of significant association was found in rs6457617 TT genotype with susceptibility to RA (\(P = 0.04\), \(p_{c} = 0.08\), \(\hbox {OR} = 1.73\)). Moreover, using multivariable analysis, the combination of rs6457617*TT–HLA-DRB1*\(04^{+}\) increased risk of RA (\(\hbox {OR} = 2.38\)), which suggest a gene–gene interaction event between rs6457617 located within the HLA-DQB1 and HLA-DRB1. Additionally, haplotypic analysis highlighted a significant association of rs6457617*T–HLA-DRB1*\(04^{+}\) haplotype with susceptibility to RA (\(P = 0.018\), \(p_{c} = 0.036\), \(\hbox {OR} = 1.72\)). An evidence of association was shown subsequently in \(\hbox {antiCCP}^{+}\) subgroup with rs6457617 both in T allele and TT genotype (\(P = 0.01\), \(p_{c} = 0.03\), \(\hbox {OR} = 1.66\) and \(P = 0.008\), \(p_{c} = 0.024\), \(\hbox {OR} = 1.28\), respectively). However, no association was shown for rs13192471 polymorphism with susceptibility and severity to RA. This study suggests the involvement of rs6457617 locus as risk variant for susceptibility/severity to RA in Tunisian population. Secondly, it highlights the gene–gene interaction between HLA-DQB1 and HLA-DRB1. 相似文献
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"Barcode-tagged" PCR primers used for multiplex amplicon sequencing generate a thus-far-overlooked amplification bias that produces variable terminal restriction fragment length polymorphism (T-RFLP) and pyrosequencing data from the same environmental DNA template. We propose a simple two-step PCR approach that increases reproducibility and consistently recovers higher genetic diversity in pyrosequencing libraries. 相似文献
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Houda Kanoun Faiçal Jarraya Ikhlass Hadj Salem Hichem Mahfoudh Yosr Chaabouni Fatma Makni Jamil Hachicha Faiza Fakhfakh 《Gene》2013
Primary hyperoxaluria type 1 (PH1) is a severe autosomal recessive inherited disorder of glyoxylate metabolism caused by mutations in the AGXT gene on chromosome 2q37.3 that encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase. These mutations are found throughout the entire gene and cause a wide spectrum of clinical severity. Rare in Europe, PH1 is responsible for 13% of the end stage renal failure in the Tunisian child. In the present work, we identified the double mutation c.32C>T (Pro11Leu) and c.731T>C (p.Ile244Thr) in AGXT gene in five unrelated Tunisian families with PH1 disease. Our results provide evidence regarding the potential involvement of c.32C>T, originally described as common polymorphism, on the resulting phenotype. We also reported an extreme intrafamilial heterogeneity in clinical presentation of PH1. Despite the same genetic background, the outcome of the affected members differs widely. The significant phenotypic heterogeneity observed within a same family, with a same genotype, suggests the existence of relevant modifier factors. 相似文献
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