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Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation.

Abstract
Alpha-Mannosidosis is a lysosomal storage disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). Major symptoms include mental retardation, skeletal changes and recurrent infections. Recently, a successful bone marrow transplantation (BMT) in an alpha-mannosidosis patient was reported. Here we show that this patient was homozygous for a novel mutation, a 1-bp insertion (1197-1198insA) in exon 9 of the LAMAN gene. By using this mutation as a marker, we demonstrate that 1 year post-BMT, the LAMAN genotype of the patient's leukocytes was identical to that of the donor. This method of genotyping blood cells is a fast and accurate way to monitor the colonization of donor bone marrow cells.
AuthorsH M Frostad Riise, G M Hansen, O K Tollersrud, O Nilssen
JournalHuman genetics (Hum Genet) Vol. 104 Issue 1 Pg. 106-7 (Jan 1999) ISSN: 0340-6717 [Print] Germany
PMID10071201 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Mannosidases
  • alpha-Mannosidase
Topics
  • Bone Marrow Transplantation
  • Genetic Carrier Screening
  • Genotype
  • Humans
  • Leukocytes (enzymology)
  • Mannosidases (deficiency, genetics)
  • Mutation (genetics)
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • alpha-Mannosidase
  • alpha-Mannosidosis (enzymology, genetics)

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