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  • Ogłoszenia
  • Plan wydawniczy
  • Regulamin ogłaszania prac
  • Zasady recenzowania i recenzenci
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Wydanie 1/2007

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

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.

Keywords: gretinoblastoma, inheritance, mutations screening, low-penetrance mutations, mosaicism, familial diagnosis and counselling.

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