Abstract:
:Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. The majority of these mutations occur de novo and differ from one patient to another. Cytogenetics and Southern blotting were shown to detect less than 15% of constitutional rearrangements. In this study we used the polymerase chain reaction (PCR) combined with denaturant gradient gel electrophoresis (DGGE) to detect point mutations or small deletions and insertions in a pool of 120 unrelated retinoblastoma patients. Partial DGGE analysis of the RB1 gene enabled us to identify sequence alterations generating stop codons, leading to amino acid substitution or affecting splice sites as well as several polymorphisms. Most of the nucleotide changes detected are flanked by direct repeats. The approach described here has proved to be a useful method for the detection of germline mutations in the RB1 gene.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Blanquet V,Turleau C,Gross MS,Goossens M,Besmond Cdoi
10.1093/hmg/2.7.975subject
Has Abstractpub_date
1993-07-01 00:00:00pages
975-9issue
7eissn
0964-6906issn
1460-2083journal_volume
2pub_type
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