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3/2006
vol. 108 abstract:
Review paper
Genetic diagnostic methods in ataxia-telangiectasia (Louis–Bar syndrome)
Heinrich Holak
1
,
Sophie Holak
2
,
Nikolai Holak
1
,
Ulrich Loel
3
Online publish date: 2006/09/15
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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. keywords:
ataxia telangiectasia, phenotype, chromosomal aberrations, cell cycle |
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POLSKI
