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- Muendlein, Axel; Leiherer, Andreas; Zach, Christina; Brandtner, Eva Maria; Fraunberger, Peter; Drexel, Heinz; Geiger, Kathrin
- Molecular biology reports 2019 v.46 no.2 pp. 2379-2385
- genetic analysis, etc ; DNA; EDTA (chelating agent); adults; beta-galactosidase; blood; blood sampling; genes; genotyping; lactose intolerance; patients; quantitative polymerase chain reaction; Show all 12 Subjects
- ... Primary hypolactasia is the main cause of lactose intolerance in adults. It is strongly associated with the single genetic variant LCT-13910C>T, located upstream of the lactase encoding gene. Consequently, analysis of LCT-13910C>T has been recommended as a direct genetic test for the trait. The aim of our study was to develop a TaqMan probe based real-time PCR protocol for the detection of the LCT ...
- Keyfi, Fatemeh; Abbaszadegan, Mohammad R.; Sankian, Mojtaba; Rolfs, Arndt; Orolicki, Slobodanka; Pournasrollah, Mohammad; Alijanpour, Morteza; Varasteh, Abdolreza
- Molecular biology reports 2019 v.46 no.1 pp. 271-285
- genetic analysis, etc ; blood; enzyme activity; gas chromatography; genes; inheritance (genetics); inherited metabolic diseases; ionization; methylmalonyl-CoA mutase; pathogenesis; patients; proteins; single nucleotide polymorphism; tandem mass spectrometry; Iran; Show all 15 Subjects
- ... Methylmalonic acidemia (MMA), an inherited metabolic disease, results from genetic defects in methylmalonyl-CoA mutase or any of the proteins involved in adenosylcobalamin synthesis. This enzyme is classified into several complementation groups and genotypic classes. In this work we explain the biochemical, structural and genetic analysis of 25 MMA patients, from Iran. The diagnosis was establishe ...