Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet 1992 Sep;2(1):46-9
Date
09/01/1992Pubmed ID
1303248DOI
10.1038/ng0992-46Scopus ID
2-s2.0-0026920886 (requires institutional sign-in at Scopus site)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.
Author List
Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WL, Weber JL, Bell GI, Buetow KHAuthor
Anne E. Kwitek PhD Professor in the Physiology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleAnterior Eye Segment
Base Sequence
Chromosomes, Human, Pair 4
DNA
Epidermal Growth Factor
Female
Genes, Dominant
Genetic Linkage
Genetic Markers
Humans
Male
Molecular Sequence Data
Pedigree
Repetitive Sequences, Nucleic Acid
Tooth Abnormalities