[VNTR-PCR in diagnosis of inherited Rb gene mutation]. / VNTR-PCR w diagnostyce nosicielstwa zmutowanego genu Rb.

ABSTRACT

Molecular genetic analysis of DNA by PCR-VNTR was performed in a family with hereditary retinoblastoma presenting some difficulties in pedigree analysis. PCR-VNTR allowed to perform a more accurate counselling in this family. Analysis of the way of transmission, carrier status exclusion (in two persons) and confirmation (in one) was possible only by VNTR-PCR.