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Last Updated: September 30, 2020

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Patent: 6,063,567

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Summary for Patent: 6,063,567
Title: Method, reagents and kit for diagnosis and targeted screening for retinoblastoma
Abstract:Reliable and cost effective testing for mutations in the RB1 gene can be accomplished by (a) quantitatively amplifying exons of the sample RB1 gene using primers complementary to intron regions flanking each exon; and (b) determining the lengths and/or quantities of the amplification products for each exon and comparing that length or quantity to the length or quantity of amplification products obtained when a wild-type RB1 gene is amplified using the same primers. Differences in length between an amplified sample exon and the corresponding amplified wild-type exon reflect the occurrence on an insertion or deletion mutation in the sample RB1 gene. Differences in quantity reflect the complete absence of an exon, or heterozygosity for a mutant exon. Next, the nucleic acid sequence of each exon found to contain an insertion or deletion mutation is determined, or of all exons in the event no insertion or deletion mutations are identified. Preferably, the amplification of the exons is multiplexed so that more than one exon is amplified in a single vessel using sets of primers which provide gene fragments of distinctive lengths when used to amplify a normal RB1 gene.
Inventor(s): Gallie; Brenda L. (Toronto, CA), Dunn; James M. (Scarborough, CA), Stevens; John K. (Toronto, CA), Hui; May (Toronto, CA)
Assignee: Visible Genetics Inc. (Toronto, CA)
Application Number:08/779,916
Patent Claims:see list of patent claims

Details for Patent 6,063,567

Applicant Tradename Biologic Ingredient Dosage Form BLA Number Approval Date Patent No. Assignee Estimated Patent Expiration Status Orphan Source
Schering INTRON A interferon alfa-2b VIAL 103132 001 1986-06-04   Start Trial Visible Genetics Inc. (Toronto, CA) 2014-07-08 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 002 1986-06-04   Start Trial Visible Genetics Inc. (Toronto, CA) 2014-07-08 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 003 1986-06-04   Start Trial Visible Genetics Inc. (Toronto, CA) 2014-07-08 RX search
>Applicant >Tradename >Biologic Ingredient >Dosage Form >BLA >Number >Approval Date >Patent No. >Assignee >Estimated Patent Expiration >Status >Orphan >Source

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