Publications by authors named "Hajer Doukali"

Article Synopsis
  • * In a study of 27 patients with congenital heart defects, researchers used karyotype analysis and FISH, discovering a de novo 22q11.2 deletion in two patients and a novel TBX1 mutation (c.569C > A) in six patients.
  • * The novel mutation could negatively affect the TBX1 protein's function and stability and was absent in 50 healthy controls, suggesting it may play a harmful role linked to the 22q11.2 deletion syndrome phenotype
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Purpose: Chronic occupational exposure to ionizing radiation (IR) induces a wide spectrum of DNA damages. The aim of this study was to assess the frequencies of micronucleus (MN), sister chromatid exchanges (SCE) and to evaluate their association with XRCC1 399 Arg/Gln and XRCC3 241 Thr/Met polymorphisms in Hospital staff occupationally exposed to IR.

Materials And Methods: A questionnaire followed by a cytogenetic analysis was concluded for each subject in our study.

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Purpose: Ionizing radiation (IR) is considered as a diagnostic and therapeutic tool in medicine. However, chronic occupational exposure of medical staff to IR may affect the antioxidant status and, as a result, DNA damage and cancers as well. The objective of our study was to evaluate the oxidative stress profile caused by IR in 29 Tunisian medical staff from radiology and radiotherapy departments, and to find an association between the GSTM1 null, GSTT1 null, and GSTP1 Ile105Val polymorphisms and oxidative stress biomarkers.

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Rett syndrome (RTT) whose major cause is the mutations in the X-linked MECP2 gene is a genetic disease that affects females. We screened two RTT patients using cytogenetic studies and in silico analysis as well as molecular analysis by the direct sequencing of MECP2. The cytogenetic results showed that although patient A was karyotypically normal, patient B showed chromosomal abnormalities, including chromosomal breakage in both chromosomes 2 and 5.

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