December 2002
Volume 43, Issue 13
ARVO Annual Meeting Abstract  |   December 2002
Rhodopsin Gene Mutation: Prenatal Diagnosis Using Chemical Cleavage of the Mismatch
Author Affiliations & Notes
  • E Vingolo
    Institute of Ophthalmology University La Sapienza Rome Italy
  • E Toniato
    Department of Experimental Medicine University of L'Aquila L'Aquila Italy Italy
  • S Donati
    Center for Inherited Degenerative Retinal Disorders Institute of Ophthalmology University of Rome "La Sapienza Rome Italy
  • C Teodori
    Inherited retinal deseases University "La Sapienza" Institute of Ophthalmology Rome Italy
  • S Martinotti
    Oncology and Neuroscience University of Chieti "G D'Annunzio" Chieti Italy
  • C Balacco-Gabrieli
    Institute of Ophthalmology University of Rome "La Sapienza" Rome Italy
  • Footnotes
    Commercial Relationships   E. Vingolo, None; E. Toniato, None; S. Donati, None; C. Teodori, None; S. Martinotti, None; C. Balacco-Gabrieli, None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 1373. doi:
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    • Get Citation

      E Vingolo, E Toniato, S Donati, C Teodori, S Martinotti, C Balacco-Gabrieli; Rhodopsin Gene Mutation: Prenatal Diagnosis Using Chemical Cleavage of the Mismatch . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1373.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : Purpose: Mutations of the rhodopsin gene are responsible for the onset of autosomal dominant or recessive retinitis pigmentosa. Methods: In this study we report the first prenatal diagnosis performed on chorionic villi biopsy of a pregnant woman affected by a severe form of autosomal-dominant transmitted retinitis pigmentosa, due to the Arg135Trp substitution. The rhodopsin gene was analyzed by automated direct sequencing and by Fluorescence-Assisted Mismatch Analysis (FAMA). The latter is an inexpensive, rapid and particularly sensitive method, based on the chemical cleavage of the mismatch in heteroduplex DNA molecules marked with strand-specific fluorophores. Results: FAMA is a feasible procedure to perform prenatal molecular diagnosis of rhodopsin genetic lesions. The redundancy of signals obtained by FAMA and its sensitivity make it suitable for identifying exactly the position of the mutation and the nucleotide substitution. Conclusion: We propose an association between FAMA and automated direct sequencing procedures, in order to achieve optimal results in terms of reliability for prenatal diagnosis of rhodopsin genetic lesions .

Keywords: 420 genetics • 562 retinal degenerations: hereditary • 517 photoreceptors 

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