scholarly journals Prevalence of beta thalassemia mutations in population of Gujarat using amplification-refractory mutation system–polymerase chain reaction

2019 ◽  
Vol 6 (8) ◽  
pp. 3294
Author(s):  
Pankaj K. Gadhia ◽  
Salil N. Vaniawala ◽  
Tushar B. Kachhadiya
Keyword(s):  
Polymerase Chain Reaction ◽  
Genetic Analysis ◽  
Prevalence Rate ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Chain Reaction ◽  
Mutation System ◽  
Polymerase Chain

Background: Beta thalassemia is the most common genetic disorder in India. Its trait, coinheritance and mutations vary from mild to severe condition, resulting in thalassemia minor (heterozygous), intermediate and major depending upon many factors. The objective of this study was to find out the prevalence rate and the carrier of beta thalassemia in population of Gujarat using molecular genetic analysis of beta thalassemia patients by targeted mutation assay (ARMS-PCR).Methods: A total 105 samples for beta thalassemia were analysed for IVS 1-5 (G→C) and CD 15 (G→A) mutations. These two common mutations of thalassemia in Gujarat were carried out using amplification refractory mutation system–polymerase chain reaction (ARMS-PCR) and gel electrophoresis method.Results: A total 105 samples referred to us for molecular genetic analysis. The occurrence of positive mutations of IVS 1-5 (G→C) and CD 15 (G→A) were found in 48 and 15 samples respectively. The rest were negatives.Conclusions: Present study concludes that the prevalence rate of Beta thalassemia was widespread among the Gujarat population. The identification of IVS 1-5 (G→C) and CD 15 (G→A) mutations was carried out. The analysis revealed that, mutational patterns of IVS 1-5 (G→C) was the most frequent among other mutations in Gujarat region. 

scholarly journals Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique

2019 ◽  
Vol 11 (3) ◽  
Author(s):  
Narutchala Suwannakhon ◽  
Tanapat Pangeson ◽  
Teerapat Seeratanachot ◽  
Khwanruedee Mahingsa ◽  
Arunee Pingyod ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Real Time ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Mutation System ◽  
Pcr Method ◽  
Polymerase Chain ◽  
Thalassemia Mutation

We propose using a modified amplification refractory mutation system real-time polymerase chain reaction (ARMS RTPCR) technique to exclude the invasive prenatal diagnosis for a non-paternally inherited beta thalassemia mutation in couples atrisk for having a baby with CHBT. The ARMS RT-PCR method was performed for 36 at-risk couples by using isolated fetal cell-free DNA from maternal plasma. The modified ARMS RT-PCR primers targeted one of the following paternally inherited beta thalassemia mutation: -28 A→G, CD17 A→T, CD 26 G→A, IVS1-1 G→T and CD 41-42 -CTTT. The method could be successfully employed for NIPST starting with the 7th week of gestation. The results showed that 19 pregnant women were negative for PIBTM (53%). After an on-track and on-time of one year, including postnatal thalassemia blood tests, none of the babies showed symptoms or signs of beta thalassemia disease. We concluded that the modified ARMS RT-PCR method was an accurate, cost-effective and feasible method for use as a NIPST for at-risk couples with the potential of having a baby with CHBT.

Central neurocytoma: morphological, flow cytometric, polymerase chain reaction, fluorescence in situ hybridization, and karyotypic analyses

1999 ◽  
Vol 90 (2) ◽  
pp. 348-354 ◽  
Author(s):  
Venita Jay ◽  
Vern Edwards ◽  
Eelco Hoving ◽  
James Rutka ◽  
Laurence Becker ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
In Situ Hybridization ◽  
Ganglion Cells ◽  
Molecular Genetic ◽  
Central Neurocytoma ◽  
Molecular Genetic Analysis ◽  
Fish Analysis ◽  
Chain Reaction ◽  
Polymerase Chain

✓ The results of cytogenetic and molecular genetic analysis of a central neurocytoma are presented. Central neurocytomas are intriguing neoplasms that exhibit primarily neuronal, but also glial characteristics, which indicate an origin from a pluripotential neuroglial precursor. The authors describe an intraventricular neurocytoma in an 11-year-old boy that showed anaplastic features with widespread necrosis and mitoses, as well as extensive calcification and foci that exhibited marked neuronal differentiation with clusters of ganglion cells. Immunohistochemical examination showed prominent synaptophysin and neurofilament positivity and focal glial fibrillary acidic protein positivity. Electron microscopy revealed abundant neuritic processes with microtubules and dense core granules as well as mature ganglion cells. Flow cytometry studies revealed increased S (7.8%) and G2M (9.7%) phase components. Molecular and cytogenetic studies were undertaken to assess whether there were similarities to two other tumor types that exhibit neuronal differentiation, the neuroblastoma and medulloblastoma. Polymerase chain reaction and fluorescence in situ hybridization (FISH) analysis revealed no evidence of amplification of the MYCN oncogene or chromosome 1p deletion, which are common in neuroblastomas. Chromosomal analysis by G banding revealed a complex karyotype, with counts in the near-diploidy range (45–48). Two chromosomes 1 appeared normal on G banding and FISH analysis, with p58 signals present on the distal p arm of both chromosomes 1; however, three additional copies of distal 1q were present in rearrangements with 4 and 7. Although the histological findings indicate a kinship to the neuroblastoma and medulloblastoma, the central neurocytoma appears to have a different karyotypic profile, although more cases need to be assessed using molecular genetic analysis.

scholarly journals CCL5 rs2107538 Polymorphism Increased the Risk of Tuberculosis in a Sample of Iranian Population

2016 ◽  
Vol 117 (2-3) ◽  
pp. 90-97 ◽  
Author(s):  
Hamid Reza Kouhpayeh ◽  
Mohsen Taheri ◽  
Mana Baziboroon ◽  
Mohammad Naderi ◽  
Gholamreza Bahari ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Pulmonary Tuberculosis ◽  
Chemokine Receptor ◽  
Iranian Population ◽  
Amplification Refractory Mutation System ◽  
Chain Reaction ◽  
Mutation System ◽  
Chemokine Ligand ◽  
Allele Specific ◽  
Polymerase Chain

Cysteine-cysteine chemokine ligand 5 (CCL5) with immunoregulatory and inflammatory activities has an important role in granuloma formations that activates and stimulates T-cells and macrophages. Cysteine-cysteine chemokine receptor 5 (CCR5) is a chemokine receptor, which is important for migration of immune cells to site of infection. In the present study we investigated the possible association between CCL5 –403G/A (rs2107538), CCL5 –28C/G (rs2280788) and CCR5 Δ32 polymorphisms and pulmonary tuberculosis (PTB) in an Iranian population. This case-control study was performed on 160 patients with pulmonary tuberculosis and 160 unrelated healthy subjects. The CCL5 –403G/A, CCL5 –28C/G and CCR5 Δ32 polymorphisms were genotyped by allele-specific polymerase chain reaction (AS-PCR), tetra amplification refractory mutation system polymerase chain reaction (T-ARMS PCR) and PCR, respectively. Our results showed that GA as well as GA+AA genotypes of CCL5 –403G/A (rs2107538) increased the risk of PTB in comparison with GG genotype (OR=1.70, 95% CI=1.03–2.81, P=0.038 and OR=1.64, 95% CI=1.00–2.68, P=0.049, respectively). No significant association was found between CCL5 –28C/G as well as CCR5 Δ32 polymorphism and PTB risk. In conclusion, our findings proposed that CCL5 –403G>A polymorphism may be a risk factor for susceptibility to PTB in our population. Larger sample sizes with different ethnicities are required to validate our findings.

scholarly journals Chickpea genotypes characteristics on resistance to fusarium Fusarium oxysporum f. sp. ciceris

2018 ◽  
Vol 23 ◽  
pp. 166-169
Author(s):  
V. A. Chekalov ◽  
N. E. Volkova
Keyword(s):  
Polymerase Chain Reaction ◽  
Molecular Markers ◽  
Fusarium Oxysporum ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chain Reaction ◽  
Resistance Level ◽  
Extraction And Purification ◽  
Polymerase Chain ◽  
Southern Ukraine

Aim. Molecular-genetic analysis of the chickpea genotypes for foc0, foc3, foc4 resistance genes to Fusarium oxysporum f. sp ciceris. Methods. Extraction and purification of DNA, spectrophotometry, polymerase chain reaction, electrophoresis in polyacrylamide gels. Results. 35 chickpea lines and varieties of Ukrainian and foreign breeding characterized according to genotyping on foc0, foc3, foc4 genes of resistance to Fusarium oxysporum f. sp ciceris by the microsatellite markers TA59, TR19 and TR59. Fragments of the expected size for all markers were obtained for samples, for which the resistance level was fixed to certain races. Match between data on the presence of a amplification fragment of a certain size and resistance level among other samples is not found. Conclusions. For 35 chickpea varieties and lines the allele state of foc0, foc3, foc4 genes of resistance to the F. oxysporum f. sp ciceris races 0, 3, 4 is established. The variety ‘Pam’yat’ is recommended as a control of resistance to F. oxysporum f. sp ciceris races 0, 3, 4 in the southern Ukraine conditions. Keywords: chickpea, genes, molecular markers, fusarios, resistance.

scholarly journals Molecular Authentication of Dendrobium Species by Multiplex Polymerase Chain Reaction and Amplification Refractory Mutation System Analysis

2012 ◽  
Vol 137 (6) ◽  
pp. 438-444 ◽  
Author(s):  
Chu-Hui Chiang ◽  
Tsong-Ann Yu ◽  
Shu-Fang Lo ◽  
Chao-Lin Kuo ◽  
Wen-Huang Peng ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Multiplex Polymerase Chain Reaction ◽  
System Analysis ◽  
Pcr Amplification ◽  
Amplification Refractory Mutation System ◽  
Chain Reaction ◽  
5.8S Rdna ◽  
Traditional Chinese Herbal Medicine ◽  
Mutation System ◽  
Polymerase Chain

The genus Dendrobium is important in traditional Chinese herbal medicine, and the precise identification of Dendrobium species is critical for the treatment and for pharmacological research. In the present study, a ribosomal DNA (rDNA) internal transcribed spacer (ITS) region-based analysis was used to ascertain the phylogenetic relationship among 20 Dendrobium species. The lengths of the ITS regions among the 20 species ranged from 636 to 653 bp, and the identities of the rDNA regions among the different species ranged from 75.7% to 99.1%. The results also showed that the ITS1 and ITS2 regions exhibit more variation than the 5.8S rDNA. A phylogenetic tree derived from the ITS sequence indicated that six medicinal Dendrobium species, of which five are common medicinal plants in the Taiwan market, were closely related and shared a common clade. Multiplex polymerase chain reaction (PCR) amplification was successfully performed to identify the six medicinal Dendrobium species, and amplification refractory mutation system (ARMS) PCR was used to distinguish D. tosaense specifically from the 19 other Dendrobium species. The established PCR-based (multiplex and ARMS) analyses can be used for the authentication of the raw materials of medicinal Dendrobium from other species.

Sign in / Sign up

Export Citation Format

Share Document