Acta Pediátrica de México

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>Journals >Acta Pediátrica de México >Year 2006, Issue 1

Gutiérrez-Aguiar L, Reyes-Vivas H, Molina B, Frias S, Hernández-Alcántara G, Ortiz C, Mora de la MI, López-Velázquez G
Differential expression of RNA in fanconi´s anemia. A probable phenotype characteristic
Acta Pediatr Mex 2006; 27 (1)

Language: Español
References: 20
Page: 24-29
PDF: 92.10 Kb.

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Objective: To analyze the expression of the triosephosphate isomerase (TIM), and the ribosomal ribonucleic acid (rRNA) from eight Fanconi anemia (FA) complementation groups.
Material and methods: International reference Epstein Barr Virus-transformed lymphoblastoid cell lines, derived from FA patients, were used. The complementation groups were AF-A (HSC72), AF-B (HSC230), AF-C (HSC536), AF-D1 (HSC62N), AF-D2 (PD20), AF-E(VU130), AF-F (VU121) and AF-G (VU143). The transcription of the gene of TIM was analyzed by RT-PCR. The expression of rRNA was analyzed by denaturing electrophoresis of the total RNA, purified by the use of trizol, from cell cultures of each complementation group.
Results: The gene of TIM was expressed in a constitutive manner for the eight groups studied. A differential expression of high molecular weight RNA species in the complementation groups E and F was found. The presence of an RNA that could correspond to the 47S rRNA precursor is shown. In addition, there was a decrease on the expression of rRNA species corresponding to 28S and 18S, in the FA-F group.
Conclusions: TIM is part of glycolysis, an essential metabolic pathway, and our results showed that FA does not affect its expression. On the other hand, the expression of high molecular weight RNAs suggests that, in some complementation groups of FA, there could exist alterations in the maturation of ribosomal RNA. Such defect in the maturation of an essential molecule as rRNA, might cause complications in the course of the illness. Further studies will allow us to determine if this could be considered as a distinctive feature for the complementation groups FA-E and FA-F.

Key words: Fanconi anemia, triosephosphate isomerase, ribosomal RNA.


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>Journals >Acta Pediátrica de México >Year 2006, Issue 1

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