title: Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.
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.
authors.affiliation: Department of Pediatrics, University of Iowa, Iowa City 52242.
authors.forename: J C
authors.initials: JC
authors.lastname: Murray
authors.forename: S R
authors.initials: SR
authors.lastname: Bennett
authors.forename: A E
authors.initials: AE
authors.lastname: Kwitek
authors.forename: K W
authors.initials: KW
authors.lastname: Small
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: W L
authors.initials: WL
authors.lastname: Alward
authors.forename: J L
authors.initials: JL
authors.lastname: Weber
authors.forename: G I
authors.initials: GI
authors.lastname: Bell
authors.forename: K H
authors.initials: KH
authors.lastname: Buetow
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities; D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000235:genetics; D004815:Epidermal Growth Factor / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid; D014071:Tooth Abnormalities / Q000235:genetics
chemical_list: D005819:Genetic Markers; D004815:Epidermal Growth Factor; D004247:DNA