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  • Title: Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: a case study.
    Author: Kunishima S, Mizuno S, Naoe T, Saito H, Kamiya T.
    Journal: Br J Haematol; 1998 Feb; 100(2):383-6. PubMed ID: 9488631.
    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.
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