[VNTR-PCR in diagnosis of inherited Rb gene mutation].
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.
Zajaczek
S
S
Zakładu Genetyki i Patomorfologii, Szczecin.
Górski
B
B
Débniak
T
T
Podolski
J
J
Lubiński
J
J
Krzystolik
Z
Z
Iwanicka
T
T
Sagan
Z
Z
D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D005134:Eye Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016161:Genes, Retinoblastoma; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*
VNTR-PCR w diagnostyce nosicielstwa zmutowanego genu Rb.