Header

UZH-Logo

Maintenance Infos

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4


Murray, Jeffrey C; Bennett, Steven R; Kwitek, Anne E; Small, Kent W; Schinzel, Albert; Alward, Wallace L M; Weber, James L; Bell, Graeme I; Buetow, Kenneth H (1992). Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nature Genetics, 2(1):46-49.

Abstract

Rieger syndrome is an autosomal dominant disorder of morphogenesis in which previous cytogenetic arrangements have suggested chromosome 4 as a candidate chromosome. Using a group of highly polymorphic short tandem repeat polymorphisms (STRP), including a new tetranucleotide repeat for epidermal growth factor (EGF), significant linkage of Rieger syndrome to 4q markers has been identified. Tight linkage to EGF supports its role as a candidate gene, although a recombinant in an unaffected individual has been identified. This study demonstrates the utility of using polymorphic STRP markers when only a limited number of small families are available for study.

Abstract

Rieger syndrome is an autosomal dominant disorder of morphogenesis in which previous cytogenetic arrangements have suggested chromosome 4 as a candidate chromosome. Using a group of highly polymorphic short tandem repeat polymorphisms (STRP), including a new tetranucleotide repeat for epidermal growth factor (EGF), significant linkage of Rieger syndrome to 4q markers has been identified. Tight linkage to EGF supports its role as a candidate gene, although a recombinant in an unaffected individual has been identified. This study demonstrates the utility of using polymorphic STRP markers when only a limited number of small families are available for study.

Statistics

Citations

Dimensions.ai Metrics
88 citations in Web of Science®
99 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

2 downloads since deposited on 05 Oct 2023
2 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Uncontrolled Keywords:Genetics, Genetics (clinical), Abnormalities, Anterior Eye Segment, Base Sequence, Chromosomes, Human, Pair 4*, DNA, Epidermal Growth Factor, Genes, Dominant, Genetic Linkage, Genetic Markers, Molecular Sequence Data, Pedigree, Repetitive Sequences, Nucleic Acid, Tooth Abnormalities
Language:English
Date:1 September 1992
Deposited On:05 Oct 2023 16:44
Last Modified:29 Apr 2024 01:40
Publisher:Nature Publishing Group
ISSN:1061-4036
OA Status:Closed
Publisher DOI:https://doi.org/10.1038/ng0992-46
PubMed ID:1303248
Other Identification Number:Corpus ID: 8778187