S Dhanjal

Publications (4)49.32 Total impact

• Source

  Available from: Gm Grimshaw

  Article: Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities.

  G M Grimshaw, A Szczepura, M Hultén, F MacDonald, N C Nevin, F Sutton, S Dhanjal
  Health technology assessment (Winchester, England) 02/2003; 7(10):1-146. · 4.26 Impact Factor
• Article: MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.

  M Vacca, F Filippini, A Budillon, V Rossi, F Della Ragione, M L De Bonis, G Mercadante, E Manzati, F Gualandi, S Bigoni, [......], I Meloni, G Hayek, M Zappella, A Renieri, M D'Urso, M D'Esposito, F Macdonald, A Kerr, S Dhanjal, M Hulten
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  ABSTRACT: Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors.
  Brain and Development 01/2002; 23 Suppl 1:S246-50. · 2.12 Impact Factor
• Source

  Available from: Elisa Manzati

  Article: Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

  M Vacca, F Filippini, A Budillon, V Rossi, G Mercadante, E Manzati, F Gualandi, S Bigoni, C Trabanelli, G Pini, [......], I Meloni, G Hayek, M Zappella, A Renieri, M D'Urso, M D'Esposito, F MacDonald, A Kerr, S Dhanjal, M Hultén
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  ABSTRACT: Rett syndrome is an X-linked dominant neurological disorder, which appears to be the commonest genetic cause of profound combined intellectual and physical disability in Caucasian females. Recently, this syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of still unknown target genes. Here we report a detailed mutational analysis of 62 patients from UK and Italian archives, representing the first comparative study among different populations and one of the largest number of cases so far analyzed. We review the literature on MECP2 mutations in Rett syndrome. This analysis has permitted us to produce a map of the recurrent mutations identified in this and previous studies. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, which is conserved among brain-specific regulatory factors.
  Journal of Molecular Medicine 02/2001; 78(11):648-55. · 4.67 Impact Factor
• Article: Rapid and simple prenatal DNA diagnosis of Down's syndrome.

  L Verma, F Macdonald, P Leedham, M McConachie, S Dhanjal, M Hultén
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  ABSTRACT: Prenatal diagnosis of chromosomal abnormality requires cytogenetic analysis of amniotic fetal cells. The necessary culture time delays diagnosis, is expensive, and requires substantial scientific expertise. In a masked prospective study, we investigated the feasibility of PCR amplification of chromosome 21 markers for the prenatal diagnosis of Down's syndrome. The study population consisted of 2167 pregnant women, undergoing amniocentesis for prenatal diagnosis. In this cohort at least 1.5 mL amniotic fluid was available surplus to the requirements for traditional diagnostic methods. DNA was extracted from the surplus amniotic fluid and amplified in fluorescence-based PCR reactions, with three small-tandem-repeat markers located on chromosome 21. The products of the reactions were analysed on a DNA sequencer to identify the presence of two or three copies of chromosome 21. In 2083 (97.4%) of 2139 samples of amniotic fluid that were not macroscopically blood-stained, two DNA markers gave an informative and correct result, identifying 2053 fetuses as normal and 30 as having trisomy 21 Down's syndrome (as confirmed by cytogenetic analysis). An extra marker was informative in 32 of 41 other clear samples. Thus a total of 99.6% informative results was achieved with these three markers. Macroscopically blood-stained samples (28 [1.3%]) were unsuitable for DNA testing. They gave a typical but non-informative result. There were no false-positive or false-negative results. The PCR-based DNA diagnostic test has great potential for improved prenatal diagnosis of Down's syndrome, with the advantage that results may be available within a day.
  The Lancet 08/1998; 352(9121):9-12. · 38.28 Impact Factor