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Étude des voies de conduction cardiaque : identification des gènes spécifiquement exprimés et impliqués dans des troubles de conduction

Abstract : We aim to identify a mutated gene responsible for familial cardiac conduction defect. This disease, which is transmitted as autosomal dominant, was localised to 19q13.3 at an interval of 10 cM. Linkage study permitted us to reduce the genetic interval to 7 cM. Using a candidate gene approach, we screened for mutation the coding sequence of 9 genes and no mutation was found. Human genome sequence DataBase revealed the presence of more than 100 genes in this interval. We chose to use the RDA (Representational Difference Analysis) approach in order to select genes that are specifically expressed in the cardiac conduction tissue, supposing that the gene responsible for this disease is expressed specifically in this tissue. This work requires the obtention of conduction tissue (impossible for human), so we decided to work with bovin hearts. We realised all steps and obtained about fourty transcripts, but only about fifteen are genes of known function and localisation on human genome. Their tissue specificity was verified by semi-quantitative RT-PCR and their cellular specificity is tested by In Situ Hybridisation, to be optimised. In parallel, we localised an X-linked Kartagener syndrome in a french family to Xq21-q24 at an interval of 34 cM, and we ruled out two genes MID2 and AKAP28 as candidate genes.
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https://tel.archives-ouvertes.fr/tel-00521428
Contributor : Loubna El Zein <>
Submitted on : Monday, September 27, 2010 - 2:56:31 PM
Last modification on : Tuesday, September 28, 2010 - 8:09:04 AM
Long-term archiving on: : Tuesday, December 28, 2010 - 2:49:43 AM

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  • HAL Id : tel-00521428, version 1

Citation

Loubna El Zein. Étude des voies de conduction cardiaque : identification des gènes spécifiquement exprimés et impliqués dans des troubles de conduction. Biochimie [q-bio.BM]. Université Claude Bernard - Lyon I, 2003. Français. ⟨NNT : 2003LYO10118⟩. ⟨tel-00521428⟩

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