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Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families
Author(s) -
Goddard Audrey D.,
Phillips Robert A.,
Greger Valerie,
Passarge Eberhard,
Höpping Wolfgang,
Zhu Xiaoping,
Gallie Brenda L.,
Horsthemke Bernhard
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03488.x
Subject(s) - retinoblastoma , genetics , bamhi , restriction fragment length polymorphism , allele , biology , germline mutation , dna , gene , microbiology and biotechnology , mutation , polymerase chain reaction , restriction enzyme
Use of an intragenic BamHI restriction fragment length polymorphism within the 5′ end of the retinoblastoma gene (RBI) provided improved genetic counselling for five familial and ten non‐familial retinoblastoma patients and their relatives. All other polymorphic probes within RBI were uninformative in three families, and accuracy of diagnosis was improved by use of this polymorphism in two families. In 10/14 informative constitutional DNA‐RB tumor DNA pairs, a reduction to homozygosity allowed identification of the RBI allele at risk to carry a germline RBI mutation.