A5055239524- Blood groups and transfusion
- T-cell and B-cell Immunology
- Prenatal Screening and Diagnostics
- Hemoglobinopathies and Related Disorders
- Immune Cell Function and Interaction
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Iron Metabolism and Disorders
- Reproductive Biology and Fertility
- Diabetes and associated disorders
- Nanopore and Nanochannel Transport Studies
- Erythrocyte Function and Pathophysiology
- Macrophage Migration Inhibitory Factor
- Reproductive System and Pregnancy
Finnish Red Cross
2020-2024
Genetic variation in the MICA and MICB genes located within major histocompatibility complex region has been reported to be associated with transplantation outcome susceptibility autoimmune diseases infections. Only limited data of polymorphism these different populations are available. We here report allelic at 2‐field resolution haplotypes Finland ( n = 1032 individuals), a north European population historical bottleneck founder effects. Altogether 24 18 alleles were found, forming 70...
Abstract Health questionnaires and donation criteria result in accumulation of highly selected individuals a blood donor population. To understand better the usefulness donor-based biobank personalised disease-associated genetic studies, for possible policies, we evaluated occurrence distributions common rare variants Finnish Blood Service Biobank. We analysed among 31,880 donors geographical distribution (i) 53 Finnish-enriched variants, (ii) mutations assumed to influence donation: four...
Abstract Background Nanopore sequencing is direct of a single-stranded DNA molecule using biological pores. A portable nanopore-based device from Oxford Technologies (MinION) depends on driving through nanopores embedded in membrane voltage. Changes current are then measured by sensor, thousands times per second and translated to nucleobases. Methods Genomic (gDNA) samples (n = 13) were tested for Rh blood group D antigen (RHD) gene zygosity droplet digital PCR. The RHD was amplified 6...
Fetal RHD screening for targeted routine antenatal anti-D prophylaxis has been implemented in many countries, including Finland, since the 2010s. Comprehensive knowledge of polymorphism population is essential performance and safety program. During first 3 years national program over 16 000 samples from RhD- women were screened fetal RHD; among them, 79 (0.5%) containing a maternal variant allele detected. Of detected variants, 35 cases remained inconclusive using traditional genotyping...
In addition to the classical HLA genes, major histocompatibility complex (MHC) harbors a high number of other polymorphic genes with less established roles in disease associations and transplantation matching. To facilitate studies non-classical non-HLA large patient biobank cohorts, we trained imputation models for MICA , MICB HLA-E HLA-F HLA-G alleles on genome SNP array data. We show, using both population-specific multi-population 1000 Genomes references, that these can be accurately...
ABSTRACT Female infertility is a common and complex health problem affecting millions of women worldwide. While multiple factors can contribute to this condition, the underlying cause remains elusive in up 15-30% cases. In our large genome-wide association study (GWAS) 22,849 with 198,989 controls from Finnish population cohort FinnGen, we unveil unique landscape genetic associated disease. Our recessive analysis identified low-frequency stop-gained mutation TBPL2 (p.Arg331Ter; minor allele...
Abstract In addition to the classical HLA genes, major histocompatibility complex (MHC) harbors a high number of other polymorphic genes with less established roles in disease associations and transplantation matching. To facilitate studies non-classical non-HLA large patient biobank cohorts, we trained imputation models for MICA, MICB, HLA-E, HLA-F HLA-G alleles on genome SNP array data. We show, using both population-specific multi-population 1000 Genomes references, that these can be...
Abstract Backround Health questionnaires and donation criteria result to accumulation of highly selected individuals in blood donor population. To understand better the usefulness donor-based biobank personalised disease-associated genetic studies for possible policies we evaluated occurrence distributions common rare variants Finnish Blood Service Biobank. Methods We analysed among 31,880 donors geographical distribution (i) 53 enriched variants, (ii) mutations assumed influence donation:...