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PMID: 2569269 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene.

American journal of human genetics ·Vol. 45 ·No. 2 ·1989-08-00 ·Pages 252-60

Scheffer H, te Meerman GJ, Kruize YC, van den Berg AH, Penninga DP, Tan KE, der Kinderen DJ, Buys CH

Abstract

Nonpenetrance of the inherited mutation responsible for retinoblastoma has been reported. By DNA analysis in families with hereditary retinoblastoma, it is possible to identify healthy individuals in whom the mutation is nonpenetrant. This requires the use of DNA markers both within and flanking the retinoblastoma gene. We have analyzed the segregation of several markers in 19 families (69 meioses) with hereditary retinoblastoma. In two families a carrier was identified who showed nonpenetrance of the mutation predisposing to retinoblastoma. The intragenic markers were informative in 15 pedigrees. The use of flanking markers from the same chromosomal region caused an increase of the number of informative families to 18. No crossing-over within the gene was observed. In one family an inherited deletion involving one of the RB1 alleles was detected. Our findings emphasize the use of a combination of both intragenic and flanking markers to obtain both the highest reliability of carrier detection in families with hereditary retinoblastoma and an accurate estimate of the frequency of nonpenetrance.

MeSH Terms
Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 13 DNA/blood,genetics Eye Neoplasms/genetics Female Genes Genetic Linkage Genetic Markers Humans Leukocytes/analysis Lod Score Male Mutation Pedigree Polymorphism, Restriction Fragment Length Retinoblastoma/genetics
Chemicals
Genetic Markers DNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Scheffer H
Department of Human Genetics, State University of Groningen, The Netherlands.
te Meerman G J
Kruize Y C
van den Berg A H
Penninga D P
Tan K E
der Kinderen D J
Buys C H
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1989-08-00
Pages
252-60
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683338
Subset
IM
Corrections
ErratumIn
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External Links
PubMed source PMC Full Text View journal details
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