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Master Thesis

Le Dépistage Préconceptionnel Génétique (DPCG) : état des lieux clinique et biologique en vue de la mise en place d'une étude pilote sur l'Ile de La Réunion

Abstract : Background: Expanded Carrier Screening (ECS) is part of common practices worldwide promoting autonomous reproductive choices. Our study follows the CCNE guidelines regarding the implementation of ECS in France and consists in two lines of enquiry: determining the opinion of Reunionese population regarding ECS and estimating the heterozygote frequency for 7 frequent and severe genetic conditions occurring on the Reunion Island. Methods: A 22 item survey was distributed online so as to seek the view of Reunionese adults regarding ECS. We also developed molecular techniques targeting 11 recurrent point variations for 7 genetic diseases in a collection of 587 DNA samples from Reunionese subjects. Results: 129/137 (94%) respondents are supportive of ECS. 82 of them (60%) are interested in performing ECS for personal benefit and 51 (62,2%) would like to resort to ECS for reproductive use. On a molecular level, we determined that 44/552 (8%) samples were heterozygous for one targeted variant. Conclusion: ECS is strongly requested among our cohort of Reunionese inhabitants. This request is supported by our molecular results highlighting a significant frequency of heterozygotes in a representative sample of Reunion Island population.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-02952414
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Submitted on : Tuesday, September 29, 2020 - 12:50:36 PM
Last modification on : Thursday, October 15, 2020 - 3:02:35 PM

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  • HAL Id : dumas-02952414, version 1

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Caroline Deiller. Le Dépistage Préconceptionnel Génétique (DPCG) : état des lieux clinique et biologique en vue de la mise en place d'une étude pilote sur l'Ile de La Réunion. Sciences du Vivant [q-bio]. 2020. ⟨dumas-02952414⟩

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