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Genes for thrombopoietin and c‐mpl are not responsible for familial thrombocythaemia: a case study
Author(s) -
Kunishima Shinji,
Mizuno Shinichi,
Naoe Tomoki,
Saito Hidehiko,
Kamiya Tadashi
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00571.x
Subject(s) - thrombopoietin , gene , proband , biology , locus (genetics) , genetics , phenotype , complementary dna , genetic linkage , platelet , microbiology and biotechnology , immunology , mutation , haematopoiesis , stem cell
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.