title: Dde I RFLP may falsify linkage analysis of hereditary retinoblastoma when using SSCP of p88PR0.6 region.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Würzburg, Josef-Schneider-Str. 4, D-97080 Würzburg, Germany.
authors.forename: M W
authors.initials: MW
authors.lastname: Sütterlin
authors.forename: P A
authors.initials: PA
authors.lastname: Sleiman
authors.forename: E
authors.initials: E
authors.lastname: Price
authors.forename: Z
authors.initials: Z
authors.lastname: Onadim
authors.forename: J
authors.initials: J
authors.lastname: Delhanty
mesh_terms: 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*
chemical_list: D016160:Retinoblastoma Protein; C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific