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Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: a case study.
- Source :
-
British journal of haematology [Br J Haematol] 1998 Feb; Vol. 100 (2), pp. 383-6. - Publication Year :
- 1998
-
Abstract
- The underlying molecular basis for familial thrombocythaemia (FT). an extremely rare form of primary thrombocythaemia which occurs in an autosomal dominant manner, is currently unknown. We have investigated a family with FT and clarified whether we could detect alteration(s) in the genes coding for c-mpl and its ligand, thrombopoietin (TPO). There was no difference in platelet c-mpl mRNA expression levels between the affected and non-affected individuals in the family. Nucleotide sequence analysis of the c-mpl cDNA for the proband revealed no abnormality. We identified an intragenic tetranucleotide short tandem repeat system in the TPO gene and found non-linkage between the TPO locus and the FT phenotype. We conclude that genes for c-mpl and TPO are not responsible for thrombocythaemia in our FT family.
Details
- Language :
- English
- ISSN :
- 0007-1048
- Volume :
- 100
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- British journal of haematology
- Publication Type :
- Academic Journal
- Accession number :
- 9488631
- Full Text :
- https://doi.org/10.1046/j.1365-2141.1998.00571.x