| 1. |
- Landin, B., et al.
(författare)
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Haemoglobin Koln as de novo mutations in Sweden : Diagnosis by PCR and specific enzymatic cleavage
- 1994
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Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 52:3, s. 156-161
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Tidskriftsartikel (refereegranskat)abstract
- Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all seem to have occurred as de novo mutations. Diagnosis was based on haemoglobin instability testing and isoelectric focusing of haemoglobin dimers. The final identification procedure for the substitutions included extraction of DNA from whole blood, polymerase chain reaction (PCR) amplification of parts of the β-globin gene and nucleotide sequencing of the resulting material, or studies of restriction length polymorphisms (RFLPs) using the restriction endonucleases Mae II or Nla III. The use of PCR-RFLP is recommended as a valuable tool for diagnosing Hb Koln.
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| 4. |
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| 5. |
- Jansson, Magnus, et al.
(författare)
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Efficient Implementation of a Submodel for Composite Materials to be Combined with the FDTD-Algorithm
- 1994
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Ingår i: IEEE Transactions on Magnetics. - : IEEE Magnetics Society. - 0018-9464 .- 1941-0069. ; 30:5, s. 3188-3191
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Tidskriftsartikel (refereegranskat)abstract
- A submodel to be used for thin sheets of semiconducting materials in combination with the finite difference time domain algorithm for solving Maxwell's equations is derived. Emphasis is concentrated on accomplishing an efficient and robust algorithm. Stability properties of the combined model are also investigated
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| 7. |
- Wallmark, Anders, et al.
(författare)
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Population genetics of the Malmö polymorphism of coagulation factor IX
- 1991
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Ingår i: Human Heredity. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 41:6, s. 391-396
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Tidskriftsartikel (refereegranskat)abstract
- The distribution of 1.198 Malmö alleles was examined in 822 men from 16 indigenous populations and 188 women from 7 of the ethnic groups. Subjects were from several European countries, the Mediterranean, East Asia, and the USA (Anglo- and African-Americans). The frequencies of the rarer (Malmö B) allele were approximately equal across Europe, the highest frequencies (0.36) being in the French and Anglo-Americans; no population was observed with clearly the highest frequency. They diminished slightly at moderate distances from Europe (Tunisia. Ethiopia) and greatly at longer distances (East Asia and West Africa). In Orientals, the frequencies ranged from 0.07 (East Indians) to 0.03 (the Chinese) and from 0.0 to 0.15 in African-Americans. Assuming selective neutrality, the data are consistent with the European origin of the ‘B’ allele when the population was small and outward spread.
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