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NR. 1 (I)/2007
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Genetyka
siatkówczaka w praktyce klinicznej – przegląd nowych zagadnień
Retinoblastoma Genetics in Clinical Practice – New Data and
Informations
Stanisław Zajączek
Zakład Genetyki i Patomorfologii Pomorskiej Akademii Medycznej w
Szczecinie
Kierownik: prof. dr hab. n. med. Jan Lubiński |
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| Summary: |
In the paper new data
about retinoblastoma genetics are discussed. Better
knowledge of their molecular nature is important for
family diagnosis and counseling improvement; it is also
significant factor lowering the cost and shortening the
time of family diagnosis.
The molecular testing of RB1 gene in search for
constitutional mutations led to the detection of ~900
mutations. This testing showed, that great part of them
completely inactivate one copy of the gene. Near 40% of
the observed mutations are preferentially localized in
some hot spots. Part of the constitutional mutations may
be germinal de novo, or germ-line mosaic; they are
observed in “false - sporadic” cases. Some type of
mutations (“low penetrant”) acts by diminishing the gene
activity only; pedigrees of those families may differ
from typically observed and familial counseling in such
families may be difficult. |
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| Key words: |
gretinoblastoma,
inheritance, mutations screening, low-penetrance
mutations, mosaicism, familial diagnosis and counselling. |
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