title: Differential expression of genes involved in Bengal macrothrombocytopenia (BMTCP).
abstract: Bengal macrothrombocytopenia (BMTCP) is a giant platelet disorder with mild to moderate thrombocytopenia, clinically characterized by mild bleeding symptoms to totally asymptomatic condition. The pathophysiological mechanism of this condition is not fully understood yet. In the present study, 5 subjects (P1-P5) with BMTCP whose platelet counts ranged between 36140X10(9)/l and mean platelet volume (MPV)13.5-16.1fl were analyzed for differential gene expression of platelets by suppressive subtractive hybridization (SSH) technique. Four genes i.e. myotubularin related protein 9 (MTMR9), iron responsive element binding protein 2 (IREB2), alpha tubulin(TUBA) and tyrosine kinase ligand (TKL) were found to be differentially expressed in patient platelets as compared to that of normal healthy controls which was further confirmed by quantitative RT PCR analysis. The study highlights a multi-factorial etiology for BMTCP which is widely prevalent in the northeastern region of the Indian subcontinent.
authors.affiliation: National Institute of Immunohaematology (ICMR), 13th Floor, KEM Hospital, Parel, Mumbai 400 012, India. Electronic address: alishahna@gmail.com.
authors.forename: Shahnaz
authors.initials: S
authors.lastname: Ali
authors.affiliation: National Institute of Immunohaematology (ICMR), 13th Floor, KEM Hospital, Parel, Mumbai 400 012, India.
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.affiliation: National Institute of Immunohaematology (ICMR), 13th Floor, KEM Hospital, Parel, Mumbai 400 012, India.
authors.forename: Shrimati
authors.initials: S
authors.lastname: Shetty
mesh_terms: D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000378:metabolism; D002648:Child; D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010974:Platelet Aggregation; D010976:Platelet Count; D012333:RNA, Messenger / Q000235:genetics; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics*; D059467:Transcriptome; D055815:Young Adult
chemical_list: D012333:RNA, Messenger
keywords: Bengal macrothrombocytopenia; GP1b/IX/V complex; Gene expression; Suppressive subtractive hybridization; qRT-PCR