Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: a case study.
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.
Kunishima
S
S
Japanese Red Cross Aichi Blood Centre, Seto.
Mizuno
S
S
Naoe
T
T
Saito
H
H
Kamiya
T
T
D000328:Adult; D001792:Blood Platelets / Q000378:metabolism; D004247:DNA / Q000378:metabolism; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; D013922:Thrombocytosis / Q000235:genetics* / Q000378:metabolism; D013926:Thrombopoietin / Q000235:genetics* / Q000378:metabolism
D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D004247:DNA; D013926:Thrombopoietin