Sökning: "null allele"

Visar resultat 1 - 5 av 15 avhandlingar innehållade orden null allele.

1. 1. Characterisation of weak and null phenotypes in the KEL and JK blood group systems

   Författare :Elisabet Sjöberg Wester; Avdelningen för hematologi och transfusionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; null; SNP; Kidd; JK; Blood group; Kell; KEL; weak;

   Sammanfattning : The focus of this thesis is on KEL and JK, two clinically important blood group systems, and the investigations of blood samples with aberrant antigen expression as in null and weak phenotypes, or with a phenotype that does not correspond to genotype. With the increasing use of DNA assays based on single nucleotide polymorphisms for blood group prediction, it is important to characterize the blood-groupencoding genes. LÄS MER

3. 2. Detecting Deletions by Analysis of Genetic Markers in Pedigrees

   Författare :Anna Johansson; Biologiska institutionen; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; cytogenetics; Genetik; Genetics; Biologi; genetic marker; pedigree; Protein S deficiency; Biology; PROS1; deletion; null allele; cytogenetik;

   Sammanfattning : A deletion is defined as a missing piece of a chromosome, ranging in size from as small as a single base pair to as much as an entire arm of a chromosome. Deletions can cause diseases, but may also have a neutral effect in the genome. LÄS MER

4. 3. Genetics and Expression of Glycosphingolipids in the P1PK and GLOB Histo-Blood Group Systems

   Författare :Julia Westman; Avdelningen för hematologi och transfusionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; glycosphingolipid; glycosyltransferase; null allele; GLOB; P1PK; Blood group;

   Sammanfattning : The glycosphingolipid (GSL) antigens in the clinically important P1PK and GLOB blood group systems are present on erythrocytes as well as other tissues and are so-called histo-blood group antigens. Blood group antigens of carbohydrate nature are products of enzymes, so-called glycosyltransferases, adding sugars in a step-wise manner to an acceptor substrate. LÄS MER

5. 4. Genetic Characterisation of Human ABO Blood Group Variants with a Focus on Subgroups and Hybrid Alleles

   Författare :Bahram Hosseini Maaf; Avdelningen för hematologi och transfusionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; glycosyltransferase; SNP; computer modelling; ABO genotyping; Immunology; serology; hybrid; Blood group ABO; transplantation; subgroup; Immunologi; serologi; rare O allele;

   Sammanfattning : ABO is the most important blood group system in transfusion medicine and transplantation immunology. The ABO blood groups differ by the presence or absence of antigens on RBCs and antibodies in plasma. Accurate determination of ABO status is critical. Genomic typing can increase the precision of blood group determination in complicated cases, e. LÄS MER

7. 5. Studies of Thai blood group and platelet polymorphism. Implications for malaria susceptibility

   Författare :Philaiphon Jongruamklang; Avdelningen för hematologi och transfusionsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Thai; Blood group polymorphism; Human platelet antigens; Malaria susceptibility; Plasmodium falciparum;

   Sammanfattning : The objectives of the thesis were to seek a better understanding of polymorphic RBC surface molecules in the Thai, and to investigate the role of certain blood groups in malarial invasion. MALDI-TOF MS was employed in Study I as an efficient method for genotyping to establish the common blood group and platelet antigen genotypes of 396 blood donors. LÄS MER