PMID: 9450787Feb 5, 1998Paper

Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia

British Journal of Haematology
C NegrierM Dechavanne

Abstract

Glanzmann thrombasthenia is the most common inherited disorder of platelets that may induce severe bleeding complications. Molecular biology techniques have offered the possibility to assess the basis of this chronic haemorrhagic disease at the molecular level. However, the accessibility of mRNA in platelets is limited by the availability of the patient's blood samples and the relatively weak amount of this material in these cells. Taking advantage of the genetic phenomenon of illegitimate transcription, we have demonstrated that glycoprotein IIb and glycoprotein IIIa mRNA could be detected in lymphoblastoid cell lines issued from normal EBV-transformed lymphoblasts. We further analysed the sequences of the two glycoprotein transcripts in lymphoblastoid cell lines from two previously characterized patients presenting with Glanzmann thrombasthenia. The results showed that illegitimate transcripts presented similar molecular abnormalities to those found in platelets. These data demonstrated that the nucleotide sequences of illegitimate transcripts were identical to tissue-specific mRNA found in platelets. We applied this methodology to screen for the genetic defect in a new thrombasthenic patient, and found a homozygous nonsense ...Continue Reading

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Citations

Jan 11, 2000·Nucleic Acids Research·R D SmithA N Schechter
Nov 18, 2003·Tissue Antigens·O OstrouskyE Gazit
Oct 2, 2001·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·T A FavaS A Waldman

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