Identification of G6PD Mediterranean mutation by amplification refractory mutation system

Maffi, Donatella; Pasquino, Maria Teresa; Caprari, Patrizia; Caforio, Maria Pia; Cianciulli, Paolo; Sorrentino, Francesco; Cappabianca, Maria Pia; Salvati, Anna Maria

doi:10.1016/s0009-8981(02)00098-0

Cited by 19 publications

(10 citation statements)

References 11 publications

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“…Genomic DNA was extracted from peripheral blood leucocytes (Qiagen, Dusseldorf, Germany). To characterize the G6PD molecular variants, such as G6PD Mediterranean 563T, G6PD A‐202A, 376G, G6PD Seattle 844C and G6PD Union 1370T, which were more frequent in Italy, restriction fragment length polymorphism (RFLP) analysis and allele refractory mutation system (ARMS) analysis were used, in accordance with Martinez di Montemuros, Maffi and Liese . On the negative DNA samples for RFLP or ARMS, the entire coding region (12 exons) was amplified by PCR according to Poggi et al .…”

Section: Design and Methodsmentioning

confidence: 99%

Glucose‐6‐phosphate dehydrogenase deficiency in Italian blood donors: prevalence and molecular defect characterization

et al. 2013

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In Italy, the presence of blood donors with G6PD deficiency is not a rare event and the class II severe variants are frequent. The identification of G6PD-deficient donors and the characterization of the molecular variants would prevent the use of G6PD-deficient RBC units when the haemolytic complications could be relevant especially for high risk patients as premature infants and neonates and patients with sickle cell disease submitted to multiple transfusions.

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Section: Design and Methodsmentioning

confidence: 99%

Glucose‐6‐phosphate dehydrogenase deficiency in Italian blood donors: prevalence and molecular defect characterization

et al. 2013

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“…Currently, the frequently used molecular methods for rapid diagnosis of G6PD mutations include denaturing gradient gel electrophoresis, [ 6 ] the amplification refractory mutation system (ARMS), [ 7 ] probe melting curve (MC) analysis, [ 8 ] microarray, [ 9 ] denaturing high-performance liquid phase chromatography (HLPC), [ 10 ] matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS), [ 11 ] PCR dot-blot hybridization, and high-resolution melting (HRM). [ 12 , 13 ] These methods are effective for detecting mutations.…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, single-locus detection is rapid and simple, but multitube operation is usually required for multilocus detection; this limitation seriously affects the ability to conduct batch testing. [ 7 , 13 ] The PCR dot-blot hybridization technique has the advantage of multiloci detection. However, this method requires a membrane hybridization detection step after PCR.…”

Section: Introductionmentioning

confidence: 99%

STARD—rapid screening for the 6 most common G6PD gene mutations in the Chinese population using the amplification refractory mutation system combined with melting curve analysis

et al. 2018

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Dot-blot hybridization and high-resolution melting curve methods are used to detect G6PD gene mutations; however, the performance and throughput limitations of these methods hinder their use for screening large populations. For simple screening, we developed a novel approach called “Amplification Refractory Mutation System combined with Melting Curve Analysis (ARMS-MC),” which enables rapid and batch-based detection of the 6 most common G6PD mutations.In this method, we established 4 PCR reaction systems that can be used to detect the 6 most common G6PD mutations (c.95A>G, c.392G>T, c.871G>A, c.1024C>T, c.1376G>T, and c.1388G>A) in the Chinese population.The ARMS-MC method was evaluated with 174 cases of clinical G6PD-deficient samples, and the results were verified by direct sequencing at G6PD gene exons. The results showed that 170 samples had ≥1 of the 6 mutations, which accounted for 97.70% of all mutations. These results were consistent with the results of direct sequencing with 100% accuracy and specificity. Sequencing validation revealed other mutations in the 4 samples in which no mutation was detected by the ARMS-MC method.ARMS-MC provides a rapid, simple, inexpensive, and accurate screening method for detecting the most common G6PD mutations in Chinese people.

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“…The complete A VPR2 gene (including introns) was amplified by PCR using GeneAmp PCR System 9700 (Perkin Elmer Applied Biosystems, Norwalk, USA). A novel W296X mutation was alternatively confirmed by amplification refractory mutation system (ARMS) using primers CNDI.N.F, CNDI.M.R and CNDI.N.R as previously described 8 . In patient 1, additional primer oligonucleotides CNDI.Ldel-lF and CNDI.del-lR were used to amplify the deletion breakpoint.…”

Section: Pcr Amplification and Dna Sequencingmentioning

confidence: 99%

Correlation Between AVPR2 Mutations and Urinary AQP2 Excretion in Patients with Nephrogenic Diabetes Insipidus

Kotnik

Battelino²,

Debeljak³

et al. 2007

Journal of Pediatric Endocrinology and Metabolism

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Activation of the V2 receptor by arginine vasopressin (AVP) results in trafficking of the water channel AQP2 to the luminal plasma membrane and a small amount into the urine. Mutations in the A VPR2 gene, encoding the AVP V2 receptor, result in congenital nephrogenic diabetes insipidus (CNDI). To determine a correlation between A VPR2 mutations and urinary AQP2 excretion, immunobloting was used to detect AQP2 in the urine of patients with CNDI before and after a dehydration test. The patients' genotype was determined using PCR amplification and direct sequencing of the complete A VPR2 gene. Urinary AQP2 excretion was absent in patients with severely debilitating mutations, a novel total deletion of the A VPR2 gene, and a novel nonsense mutation W296X. However, it was detected in siblings with a V88M missense mutation. Urinary AQP2 excretion correlated well with other tested phenotype markers. Urinary AQP2 excretion could be used to evaluate the remaining in vivo integrity of the AVP-V2 receptor-AQP2 cascade in patients with CNDI.

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Identification of G6PD Mediterranean mutation by amplification refractory mutation system

Cited by 19 publications

References 11 publications

Glucose‐6‐phosphate dehydrogenase deficiency in Italian blood donors: prevalence and molecular defect characterization

Glucose‐6‐phosphate dehydrogenase deficiency in Italian blood donors: prevalence and molecular defect characterization

STARD—rapid screening for the 6 most common G6PD gene mutations in the Chinese population using the amplification refractory mutation system combined with melting curve analysis

Correlation Between AVPR2 Mutations and Urinary AQP2 Excretion in Patients with Nephrogenic Diabetes Insipidus

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