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© 1994 Oxford University Press

OTHER

Spectrum of small length germline mutations in the RB1 gene

Dletmar R. Lohmann, Birglt Brandt, Wolfgang Höpping1, Eberhard Passarge and Bernhard Horsthemke*

Zentrum fur Augenheilkunde,Universrtátsklinikum Essen, Hufelandstr,55, D-45122 Essen, Germany 1Institut für Humangenetik, Universrtátsklinikum Essen, Hufelandstr, 55, D-45122 Essen, Germany

*To whom correspondence should be addressed

Received August 8, 1994; Accepted September 20, 1994

A screening method based on multiplexed automated fragment length analysis of polymerase chain reaction products was used to identify germline mutations in the RB1 gene. By screening 106 unrelated patients with hereditary retinoblastoma, 20 small deletions (1–18 bp) and seven insertions (1–5 bp) were Identified. When collating our data with reported mutations, recurrence of small length mutations was observed at nine sites within the RB1 gene. Most of these contained mono-tonic runs or direct repeats embedded In homocopoly-mer tracts. While the majority of mutations resulted In premature truncation, two mutations caused an In-frame loss of F755 and G540 to E545, respectively. A genotype - phenotype comparison of patients carrying different small length mutations did not reveal any consistent relation. Particularly, the two patients with In-frame mutations showed a high number of tumours consistent with regular-penetrance retinoblastoma.


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