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1.
Hum Genet ; 142(3): 445-456, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36658365

RESUMO

Single-nucleotide variants (SNVs) and copy number variations (CNVs) are the most common genomic variations that cause phenotypic diversity and genetic disorders. MALDI-TOF-MS is a rapid and cost-effective technique for multi-variant genotyping, but it is challenging to efficiently detect CNVs and clustered SNVs, especially to simultaneously detect CNVs and SNVs in one reaction. Herein, a novel strategy termed Target-Allele-Specific Probe Single-Base Extension (TASP-SBE) was devised to efficiently detect CNVs and clustered SNVs with MALDI-TOF-MS. By comprehensive use of traditional SBE and TASP-SBE strategies, a MALDI-TOF-MS assay was also developed to simultaneously detect 28 α-/ß-thalassemia mutations in a single reaction system, including 4 α-thalassemia deletions, 3 HBA and 21 HBB SNVs. The results showed that all 28 mutations were sensitively identified, and the CNVs of HBA/HBB genes were also accurately analyzed based on the ratio of peak height (RPH) between the target allele and reference gene. The double-blind evaluation results of 989 thalassemia carrier samples showed a 100% concordance of this assay with other methods. In conclusion, a one-tube MALDI-TOF-MS assay was developed to simultaneously genotype 28 thalassemia mutations. This novel TASP-SBE was also verified a practicable strategy for the detection of CNVs and clustered SNVs, providing a feasible approach for multi-variants analysis with MALDI-TOF-MS technique.


Assuntos
Talassemia , Talassemia beta , Humanos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Alelos , Talassemia beta/genética , Variações do Número de Cópias de DNA , Talassemia/genética , Mutação
2.
Polymers (Basel) ; 15(17)2023 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-37688149

RESUMO

After polymer flooding in Daqing Oilfield, the heterogeneity of the reservoir is enhanced, leading to the development of the dominant percolation channels, a significant issue with inefficient circulation, a substantial amount of displacement agents, and elevated cost. In order to further improve oil recovery, an adaptive oil displacement system (ASP-PPG) was proposed by combining preformed particle gel (PPG) with an alkali-surfactant-polymer system (ASP). This comprehensive study aims to assess the effectiveness of the adaptive oil displacement system (ASP-PPG) in improving the recovery efficiency of heterogeneous reservoirs after polymer flooding. The evaluation encompasses various critical aspects, including static performance tests, flow experiments, microscopic experiments, profile control experiments, and flooding experiments conducted on a four-layer heterogeneous physical model. The experimental results show that the adaptive system has robust stability, enhanced mobility, effective plugging capability, and profile improvement capability. Notably, the system demonstrates the remarkable ability to successfully pass through the core and effectively block the large pores, resulting in an 18.4% recovery incremental after polymer flooding. This improvement is reflected in the reduced oil saturation values in the ultra-high permeability, high permeability, medium, and low permeability layers, which are 5.09%, 7.01%, 13.81%, and 15.45%, respectively. The adaptive system effectively recovered the remaining oil in the low and medium permeability layers, providing a promising approach for improving the recovery factors under challenging reservoir conditions.

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