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NR 7-9/2006
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Metody genetyczne w
rozpoznaniu: ataksja teleangiektazja (syndrom Louis–Bar)
Genetic diagnostic methods
in ataxia-telangiectasia (Louis–Bar syndrome)
Heinrich Holak1, Sophie Holak2,
Nikolai Holak1, Ulrich Loel3
1 Z Kliniki Okulistycznej w Centrum Medycznym im. R.
Virchowa w Salzgitter
Kierownik: dr Heinrich Holak
2 Z Kliniki Okulistycznej w Schlosspark-Klinik Berlin
Kierownik: dr Christoph Niederstadt
3 Z Oddziału Neurologii w Centrum Lekarskim im. R.
Virchowa w Salzgitter
Kierownik: dr Ulrich Loel |
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| Summary: |
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. |
| Słowa kluczowe: |
ataksja teleangiektazja,
fenotyp, aberracje chromosomowe, cykl komórkowy. |
| Key words: |
ataxia telangiectasia,
phenotype, chromosomal aberrations, cell cycle. |
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