Klinika oczna · 2006
[Genetic diagnostic methods in ataxia-telangiectasia (Louis-Bar syndrome)].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Holak Heinrich, Holak Sophie, Holak Nikolai, Loel Ulrich
Аннотация
PURPOSE: To introduce important genetic diagnostic methods for diagnosis of ataxia telangiectasia.
MATERIAL AND METHODS: Methods comprised: standard neuropsychiatric and ophthalmologic clinical investigations, analysis of karyograms obtained from cultured lymphocytes, and electronic measurements of lymphocyte nuclei for establishing phases of the cell cycle in radiated and non-radiated lymphocytes that were recovered from a patient.
RESULTS: Cerebellar atrophy in MRT was associated with typical neuroophthalmological symptoms. Structural chromosomal abnormalities with deletion or translocation was found. The cell cycle study showed a characteristic high sensitivity on radiation; particularly high reduction of active cells after radiation was observed in the G1 and S phases. The defective G1/S and S checkpoints were established. The G2/GF ratio was more than threefold higher compared to that of the control group. A very high alpha-fetoprotein level was also noticed.
CONCLUSIONS: A clinical diagnosis of ataxia-telangiectasia should be confirmed through genetic methods.
MATERIAL AND METHODS: Methods comprised: standard neuropsychiatric and ophthalmologic clinical investigations, analysis of karyograms obtained from cultured lymphocytes, and electronic measurements of lymphocyte nuclei for establishing phases of the cell cycle in radiated and non-radiated lymphocytes that were recovered from a patient.
RESULTS: Cerebellar atrophy in MRT was associated with typical neuroophthalmological symptoms. Structural chromosomal abnormalities with deletion or translocation was found. The cell cycle study showed a characteristic high sensitivity on radiation; particularly high reduction of active cells after radiation was observed in the G1 and S phases. The defective G1/S and S checkpoints were established. The G2/GF ratio was more than threefold higher compared to that of the control group. A very high alpha-fetoprotein level was also noticed.
CONCLUSIONS: A clinical diagnosis of ataxia-telangiectasia should be confirmed through genetic methods.
Предметные рубрики MeSH
AdultAtaxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsBiomarkersCell CycleCell Cycle ProteinsChromosome AberrationsChromosome DisordersChromosomes, Human, Pair 14Chromosomes, Human, Pair 7DNA-Binding ProteinsGenetic MarkersHumansKaryotypingLymphocytesMaleNeurologic ExaminationProtein Serine-Threonine KinasesTumor Suppressor Proteinsalpha-Fetoproteins