A C Syvanen
Affiliation: Akademiska sjukhuset
- From gels to chips: "minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphismsA C Syvanen
Department of Medical Sciences, Molecular Medicine, Uppsala University Hospital, Sweden
Hum Mutat 13:1-10. 1999..This review discusses the different approaches, ranging from traditional gel-based formats to multiplex detection on microarrays that have been developed and applied to minisequencing assays...
- A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNAS Sigurdsson
Molecular Medicine, Department of Medical Sciences, Uppsala University, 75185 Uppsala, Sweden
Genomics 87:534-42. 2006..We observed 144 haplotypes that correspond to previously determined mitochondrial "haplogroups," and they allowed prediction of the origin of the maternal population lineage of 97% of the analyzed samples...
- Assessing hematopoietic chimerism after allogeneic stem cell transplantation by multiplexed SNP genotyping using microarrays and quantitative analysis of SNP allelesM Fredriksson
Department of Medical Sciences, Uppsala University, Uppsala, Sweden
Leukemia 18:255-66. 2004..The results agreed well with the data obtained by microsatellite analysis. Thus, we conclude that the two-phased minisequencing strategy is a useful approach in the following up of patients after SCT...
- Variation in genes in the endothelin pathway and endothelium-dependent and endothelium-independent vasodilation in an elderly populationL Lind
Department of Medical Sciences, Uppsala University, Stockholm, Sweden
Acta Physiol (Oxf) 208:88-94. 2013..This study aimed to investigate whether circulating levels of endotehlin-1 or genetic variations in genes in the endothelin pathway were related to endothelium-dependent vasodilation...
- Heteroplasmy of the human mtDNA control region remains constant during lifeM Lagerstrom-Fermer
Molecular Medicine, Department of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden
Am J Hum Genet 68:1299-301. 2001..On the basis of our results, heteroplasmy in the control region of mtDNA seems to be inherited and is not the result of somatic age-related accumulation...