Table 2
List of mutations identified in our study
| Patient | Sex | Tumour form/type | Mutation | Effect | Localisation | Method of detection | GenBank number |
|---|---|---|---|---|---|---|---|
| Novel mutations are shown in bold and constitutional mutations are underlined. The mutation nomenclature was based in Dunnen and Antonarakis.26 Nucleotide positions and codon identification numbers are based on the normal RB1 sequence (GenBank accession L11910). | |||||||
| B, bilaterally affected patients; E, exon; F, familial; I, intron; S, sporadic; U, unilaterally affected patients; SEQ, direct DNA sequencing; SSCP1, single strand conformational polymorphism gel without glycerol; SSCP2, single strand conformational polymorphism gel with glycerol. | |||||||
| HC17 | Male | S/B | g.5506-5507insAG | R73fsX77 | E 2 | SEQ | AY282604 |
| g.78238C>T | R552X | E 17 | SSCP2 | L41924 | |||
| HC6 | Male | S/U | g.64348C>T | R320X | E 10 | SEQ | AF532992 |
| HC1 | Male | S/U | g.76429G>A | Abnormal splicing | I 13 | SSCP1 | AY124935 |
| HC27 | Female | S/B | g.76430C>T | R445X | E 14 | SEQ | AF532990 |
| HC7 | Female | F/B | g.78238C>T | R552X | E 17 | SSCP2 | L41924 |
| HC38 | Female | F/B | g.78238C>T | R552X | E 17 | SSCP2 | L41924 |
| HC9 | Male | S/B | g.78250C>T | R556X | E 17 | SSCP2 | L41904 |
| HC3 | Male | S/B | g.150037C>T | R579X | E 18 | SSCP1, 2 | AF532991 |
| HC19 | Female | S/U | g.150037C>T | R579X | E 18 | SSCP1, 2 | AF532991 |
| HC22 | Male | S/U | g.156795T>C | L688P | E 20 | SSCP2 | AY124936 |
