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Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: a case study.

Authors :
Kunishima S
Mizuno S
Naoe T
Saito H
Kamiya T
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