Factor VIII gene mutations and RFLP analysis in hemophilia A. Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families. RFLP analysis for diagnosis of haemophilia A in the German Democratic Republic. Infection, Genetics and Evolution, 86: 104625. Development of a PCR-RFLP method for detection of D614G mutation in SARS-CoV-2. Hashemi, S.A., Khoshi, A., Ghasemzadeh-Moghaddam, H., Ghafouri, M., Taghavi, M., Namdar-Ahmadabad, H., Azimian, A. Fetal and Neonatal Edition, 92: F408–F413. Impact of common genetic variation on neonatal disease and outcome. Philosophical Transaction of the Royal Society B: Biological Sciences, 370: 20130371. Journal of Pediatric Gastroenterology and Nutrition, 14: 118–119. Association of altered RFLP with coeliac disease among Hungarian families. Google ScholarĮndreffy, E., Várkonyi, Á., Kaiser, G.I., Raskó, I. SNP-RFLPing: restriction enzyme mining for SNPs in genomes. Google ScholarĬhang, H.W., Yang, C.H., Chang, P.L., Cheng, Y.H., Chuang, L.Y. SNP-RFLPing 2: an updated and integrated PCR-RFLP tool for SNP genotyping. Google ScholarĬhang, H.W., Cheng, Y.H., Chuang, L.Y., Yang, C.H. HLA-G and susceptibility to develop celiac disease. Google ScholarĬatamo, E., Zupin, L., Segat, L., Celsi, F., Crovella, S. American Journal of Human Genetics, 48: 137–144. Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. Google Scholarīudowle, B., Chakraborty, R., Giusti, A.M., Eisenberg, A.J., Allen, R.C. Global spread of SARS-CoV-2 subtype with spike protein mutation D614G is shaped by human genomic variations that regulate expression of TMPRSS2 and MX1 genes. Google Scholarīhattacharyya, C., Das, C., Ghosh, A., Singh, A., Mukherjee, S., Majumder, P., Basu, A., Biswas, N. (ed.) Gel Electrophoresis – Principles and Basics, InTech, London. Restriction fragment length polymorphism analysis of PCR-ampli-restriction fragment length polymorphism afied fragments (PCR-RFLP) and gel electrophoresis – valuable tool for genotyping and genetic fingerprinting. Carrier detection of ovine hemophilia a using an RFLP marker, and mapping of the factor VIII gene on the ovine X-chromosome. Google Scholarīackfisch, W., Neuenschwander, S., Giger, U., Stranzinger, G., Pliška, V. Journal of Clinical Laboratory Analysis, 32: e22440. A facile PCR-RFLP method for genotyping of ITPA rs1127354 and rs7270101 polymorphisms. M., Behnava, B., Pouryasin, M., Keshvari, M., Pouryasin, A. RFLP-PCR is a low-cost and low-throughput research method allowing for the analysis of SNPs in the absence of specialised equipment, and it is useful when there is a limited budget.Īlavian, S.E., Sharafi, H., Shirmast, P., Alavian, S. Despite its obsolescence and the presence of high-throughput DNA analysis techniques, it is still applied in the analysis of SNPs associated with disease entities and in the analysis of genetic variation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The RFLP-PCR method employs four steps: (1) isolation of genetic material and PCR (2) restriction digestion of amplicons (3) electrophoresis of digested fragments and (4) visualisation. RFLP-PCR is an easy-to-perform and inexpensive tool for initial analysis of SNPs potentially associated with some monogenic diseases, as well as in genotyping, genetic mapping, lineage screening, forensics and ancient DNA analysis. Polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) is a technique used to identify single nucleotide polymorphisms (SNPs) based on the recognition of restriction sites by restriction enzymes. Nucleotide polymorphisms, DNA analysis, polymerase chain reaction Abstract University of Lodz, Faculty of Biology and Environmental Protection, Department of General Biophysics, Pomorska 141/143, 90-236 Lodz, Poland
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