Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus

DNA samples from 60 unrelated patients with retinoblastoma were screened by Southern blot hybridization using two probes that are closely linked to the retinoblastoma locus within human chromosome band 13q14. Seven of 44 patients with bilateral or multifocal unilateral retinoblastoma and one patient...

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Bibliographic Details
Published in:Human genetics 1987-07, Vol.76 (3), p.257-261
Main Authors: HORSTHEMKE, B, GREGER, V, BARNERT, H. J, HÖPPING, W, PASSARGE, E
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 13
DNA - genetics
Eye Neoplasms - genetics
Female
Genetic Linkage
Genetic Markers
Humans
Male
Medical sciences
Ophthalmology
Pedigree
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Retinoblastoma - genetics
Tumors and pseudotumors of the eye, orbit, eyelid, lacrimal apparatus
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Summary:DNA samples from 60 unrelated patients with retinoblastoma were screened by Southern blot hybridization using two probes that are closely linked to the retinoblastoma locus within human chromosome band 13q14. Seven of 44 patients with bilateral or multifocal unilateral retinoblastoma and one patient with unifocal unilateral retinoblastoma were found to have a heterozygous deletion for the anonymous DNA sequence H3-8. Three of the eight deletions did not include the esterase D locus and were undetectable by conventional cytogenetic analysis. The findings are compatible with the deletions being the cause of retinoblastoma in these cases and provide a basis for DNA diagnosis in nearly 20% of patients with bilateral and multifocal unilateral retinoblastoma. The H3-8 probe also detects a restriction fragment length polymorphism that is a useful genetic marker in some families.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00283619