Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

ABSTRACT:

Background/aim

Macrothrombocytopenia is an autosomal-dominant disorder characterized by increased platelet size and a decreased number of circulating platelets. The membrane skeleton and the link between actin filaments of the skeleton and microtubules, which consist of alpha and beta tubulin [including the tubulin beta-1 chain (TUBB1)] heterodimers, are important for normal platelet morphology, and defects in these systems are associated with macrothrombocytopenia.

Materials and methods

In this study, we sequenced the exons of the TUBB1 gene using DNA isolated from the peripheral blood samples of healthy controls (n = 47) and patients with macrothrombocytopenia (n = 37) from Turkey. The TUBB1 expression levels in fractioned blood samples from patients and healthy controls w

SUBMITTER: Calıskaner ZO 

PROVIDER: S-EPMC8203157 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature