Dde I RFLP may falsify linkage analysis of hereditary retinoblastoma when using SSCP of p88PR0.6 region.
The polymorphic p88PR0.6 locus (Xba I RFLP) in intron 17 of the retinoblastoma gene is a DNA marker with high informative content frequently used for linkage analysis of familial retinoblastoma. We identified an unreported Dde I restriction fragment length polymorphism close to the polymorphic Xba I recognition site that interferes with the SSCP analysis of the PR0.6 region. We have named this new polymorphism RB1.17. Under most electrophoresis conditions, the single strand conformations reflect the Dde I genotype rather than that of Xba I. The chromosomal localization, allele frequencies, inheritance and PCR-based detection of the Dde I RFLP which is useful for linkage analysis itself are reported.
Sütterlin
M W
MW
Department of Obstetrics and Gynaecology, University of Würzburg, Josef-Schneider-Str. 4, D-97080 Würzburg, Germany.
Sleiman
P A
PA
Price
E
E
Onadim
Z
Z
Delhanty
J
J
D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*
D016160:Retinoblastoma Protein; C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific