Sökning: "rare variants"

Visar resultat 11 - 15 av 145 avhandlingar innehållade orden rare variants.

1. 11. Characterization of structural chromosomal variants by massively parallel sequencing

   Författare :Jesper Eisfeldt; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Chromosomal Structural Variation (SV) such as translocations, inversions, deletions, and duplications are rearrangements of one or several DNA molecules. SVs are widespread across the human genome, and each individual carries thousands of SVs of different types and sizes. LÄS MER

3. 12. Quantitative analysis of disease associated mutations and sequence variants

   Författare :Charlotta Olsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; Clinical genetics; Klinisk genetik; Molecular Medicine; molekylär medicin genetik och patologi ;

   Sammanfattning : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. LÄS MER

4. 13. Genetic causes and molecular mechanisms underlying rare metabolic bone diseases

   Författare :Alice Costantini; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The skeletal system provides support for the body, enables movement and protects inner organs. Moreover, it supplies blood cells and acts as a reservoir for minerals and fat. Several external factors, including nutrition and long-term illness, influence bone health but genetic factors also play an important role. LÄS MER

5. 14. Identification and characterisation of SMIM1 variants determining the Vel blood group

   Författare :Mikael Kronborg Christophersen; Avdelningen för hematologi och transfusionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Blood groups; Vel blood group system; genetic variation; transcriptional regulation;

   Sammanfattning : The Vel blood group antigen is present on red blood cells from all humans except rare Vel-negative individuals, who can form antibodies to Vel in response to transfusion or pregnancy. It was first described in 1952 as a high incidence antigen, while the molecular background was recently discovered to be a 17-bp deletion in Small Integral Membrane Protein 1, that causes a frame-shift mutation and abolishes SMIM1 expression, thus creating a Vel-negative phenotype. LÄS MER

7. 15. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

   Författare :Jakob Schuy; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Structural variants (SVs) within the genome, such as deletions, duplications, inversions, and translocations, are common but underappreciated causes of rare diseases. Complex genomic rearrangements involving two or more SVs in cis are incredibly challenging to detect. LÄS MER