Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.
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.
Murray
J C
JC
Department of Pediatrics, University of Iowa, Iowa City 52242.
Bennett
S R
SR
Kwitek
A E
AE
Small
K W
KW
Schinzel
A
A
Alward
W L
WL
Weber
J L
JL
Bell
G I
GI
Buetow
K H
KH
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
D005819:Genetic Markers; D004815:Epidermal Growth Factor; D004247:DNA